Genetic Disorders: Alpha1 Antitrypsin and Abetalipoproteinemia
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Questions and Answers

Which of the following best describes the major consequence of hereditary fructose intolerance?

  • Severe symptoms including jaundice and cirrhosis (correct)
  • Normal blood glucose levels with cataracts
  • Mild hypoglycemia with no clinical presentation
  • Asymptomatic with normal urine findings

    • What is the primary mechanism of myopathy in patients taking fibrates?

  • Inhibition of cytochrome metabolism (correct)
  • Direct hepatotoxicity
  • Enhanced production of VLDL
  • Increased triglyceride levels

    • What is the first step in the gluconeogenesis pathway?

  • Fructose-1,6-bisphosphatase
  • Pyruvate carboxylase (correct)
  • Lactate dehydrogenase
  • Phosphoenolpyruvate carboxykinase

    • Which of the following statements about Alpha1 antitrypsin deficiency is true?

    <p>It demonstrates co-dominant inheritance.</p> Signup and view all the answers

    Which metabolic disorder is characterized by infantile cataracts?

    <p>Galactokinase deficiency</p> Signup and view all the answers

    What is the main consequence of aldose reductase activity in diabetes?

    <p>Formation of sorbitol leading to osmotic injury.</p> Signup and view all the answers

    What condition arises from the deficiency of fructokinase?

    <p>Essential fructosuria without symptoms</p> Signup and view all the answers

    Which clinical feature is indicative of abetalipoproteinemia?

    <p>The presence of fat droplets in the bowel wall.</p> Signup and view all the answers

    What is the primary defect in chronic granulomatous disease?

    <p>Defects in NADPH oxidase.</p> Signup and view all the answers

    Which of the following symptoms is most commonly associated with pancreatitis in the context of lipid disorders?

    <p>Abdominal pain and triglycerides overproduction</p> Signup and view all the answers

    Which of the following is a classic symptom of Angelman syndrome?

    <p>Easily made happy.</p> Signup and view all the answers

    What is the risk associated with breast milk in infants diagnosed with classic galactosemia?

    <p>Lactose catabolization to glucose and galactose</p> Signup and view all the answers

    Which bacterium is associated with sepsis in neonates suffering from classic galactosemia?

    <p>Escherichia coli</p> Signup and view all the answers

    What is a significant complication associated with classic galactosemia?

    <p>Cataracts caused by galactose.</p> Signup and view all the answers

    In alkaptonuria, which biochemical process is primarily disrupted?

    <p>Conversion of tyrosine to fumarate.</p> Signup and view all the answers

    What is the hallmark presentation of an individual with beta-lipoproteinemia?

    <p>Acanthocytes (spur cells).</p> Signup and view all the answers

    Which of the following correctly describes the effect of smoking on Alpha1 antitrypsin deficiency?

    <p>It worsens emphysema due to increased elastase activity.</p> Signup and view all the answers

    What is the primary genetic defect associated with cystic fibrosis?

    <p>Deletion of phenylalanine in CFTR</p> Signup and view all the answers

    Which treatment binds to misfolded CFTR channels to improve their function?

    <p>Ivacaftor</p> Signup and view all the answers

    What is a significant complication associated with cystic fibrosis?

    <p>Congenital bilateral absence of vas deferens</p> Signup and view all the answers

    Which feature is NOT typically associated with Down syndrome?

    <p>Situs inversus</p> Signup and view all the answers

    What is the main genetic cause of Edward syndrome?

    <p>18 trisomy due to nondisjunction</p> Signup and view all the answers

    In Duchenne muscular dystrophy, what type of mutation is primarily observed?

    <p>Frameshift mutation</p> Signup and view all the answers

    Which of the following is a common feature in both Duchenne and Becker muscular dystrophy?

    <p>Pseduohypertrophy</p> Signup and view all the answers

    What is the mechanism of action of statins in treating hypercholesterolemia?

    <p>Inhibits HMG-CoA reductase</p> Signup and view all the answers

    Which symptom is characteristic of Kartagener syndrome?

    <p>Immotile dynein arms in sperm</p> Signup and view all the answers

    What is the primary cause of death in both Duchenne and Becker muscular dystrophy?

    <p>Cardiomyopathy</p> Signup and view all the answers

    Which abnormality in laboratory findings is associated with Down syndrome in the second trimester?

    <p>Decreased estriol and AFP with increased bhCG</p> Signup and view all the answers

    What effect do uncoupling agents like 2,3-dinitrophenol have on ATP production?

    <p>Increase oxygen consumption and ATP production ratio</p> Signup and view all the answers

    Which deficiency is indicated by symptoms including dementia, dermatitis, and diarrhea?

    <p>Niacin deficiency</p> Signup and view all the answers

    A patient on isoniazid for tuberculosis presents with seizures. Which vitamin deficiency is likely responsible?

    <p>Vitamin B6 deficiency</p> Signup and view all the answers

    What is the primary function of Vitamin B6 in heme synthesis?

    <p>Conversion of succinyl-CoA to heme</p> Signup and view all the answers

    What dietary pattern in women may lead to a folate deficiency characterized by elevated MCV?

    <p>Tea and toast diet</p> Signup and view all the answers

    Which vitamin deficiency commonly leads to megaloblastic anemia and hypersegmented neutrophils?

    <p>Vitamin B9 deficiency</p> Signup and view all the answers

    Which pathway requires biotin (Vitamin B7) for a decarboxylation reaction?

    <p>Pyruvate to oxaloacetate</p> Signup and view all the answers

    Which cofactor is required for the synthesis of niacin from tryptophan?

    <p>Vitamin B6</p> Signup and view all the answers

    What is a common cause of Vitamin B7 (Biotin) deficiency?

    <p>Raw egg white consumption</p> Signup and view all the answers

    What is the primary use of reverse transcription PCR?

    <p>To detect mRNA levels</p> Signup and view all the answers

    Which vitamin deficiency can lead to increased susceptibility to infections?

    <p>Vitamin A</p> Signup and view all the answers

    Which of the following is characteristic of hypervitaminosis A?

    <p>Cleft lip and palate due to teratogenic effects</p> Signup and view all the answers

    What is the function of selenium in the human body?

    <p>Cofactor for glutathione peroxidase</p> Signup and view all the answers

    Dry beriberi is typically associated with which deficiency?

    <p>Vitamin B1 (thiamine)</p> Signup and view all the answers

    What is a significant risk associated with thiamine administration in a patient with deficiency?

    <p>Worsening of neurological symptoms</p> Signup and view all the answers

    Which type of ELISA test is designed to detect antigens in a patient’s serum?

    <p>Direct ELISA</p> Signup and view all the answers

    Which statement best describes the role of vitamin A derivatives in treating acute promyelocytic leukemia?

    <p>Induces differentiation of leukemic cells into mature neutrophils</p> Signup and view all the answers

    What is a common consequence of zinc deficiency in the body?

    <p>Anosmia and dysgeusia</p> Signup and view all the answers

    Which type of leukemia is associated with the Philadelphia chromosome?

    <p>Chronic myelogenous leukemia (CML)</p> Signup and view all the answers

    Which vitamin is essential for maintaining the function of pyruvate dehydrogenase?

    <p>Vitamin B1 (thiamine)</p> Signup and view all the answers

    Which of the following is a presentation of Menkes syndrome?

    <p>Seizures</p> Signup and view all the answers

    What is the result of niacin deficiency?

    <p>Hartnup disease</p> Signup and view all the answers

    Which vitamin is known to cause facial flushing as a side effect when administered in high doses?

    <p>Vitamin B3 (niacin)</p> Signup and view all the answers

    What genetic disorder is defined by a deficiency of phenylalanine hydroxylase?

    <p>Classic phenylketonuria</p> Signup and view all the answers

    Which statement regarding mitochondrial disorders is true?

    <p>They can present with lactic acidosis.</p> Signup and view all the answers

    What is a key characteristic of fragile X syndrome?

    <p>X-linked recessive inheritance</p> Signup and view all the answers

    Which condition is associated with cardiac rhabdomyomas?

    <p>Tuberous sclerosis</p> Signup and view all the answers

    What type of inheritance does Friedreich ataxia exhibit?

    <p>Autosomal recessive</p> Signup and view all the answers

    What distinguishes malignant phenylketonuria from classic phenylketonuria?

    <p>Inability to convert tyrosine to L-DOPA</p> Signup and view all the answers

    Which of the following is NOT a symptom of myotonic dystrophy?

    <p>Hyperprolactinemia</p> Signup and view all the answers

    What primary clinical feature is observed in Neurofibromatosis type 1?

    <p>Cafe au lait spots</p> Signup and view all the answers

    Which condition is associated with ragged red fibres?

    <p>Myoclonic epilepsy</p> Signup and view all the answers

    What is the role of N-acetylglutamate in the urea cycle?

    <p>It is a positive allosteric regulator of carbamoyl phosphate synthetase I.</p> Signup and view all the answers

    Which of the following statements about heteroplasmy is true?

    <p>It denotes the presence of more than one type of mitochondrial DNA in the same individual.</p> Signup and view all the answers

    Which laboratory technique is used for the detection of proteins?

    <p>Western blot</p> Signup and view all the answers

    What is the consequence of the accumulation of misfolded proteins in the liver due to Alpha1 antitrypsin deficiency?

    <p>Death of hepatocytes leading to cirrhosis</p> Signup and view all the answers

    Which laboratory finding is characteristic of abetalipoproteinemia?

    <p>Presence of spur cells</p> Signup and view all the answers

    How does smoking exacerbate the effects of Alpha1 antitrypsin deficiency?

    <p>By increasing elastase activity in the lungs</p> Signup and view all the answers

    What is the primary biochemical defect in alkaptonuria?

    <p>Inability to convert tyrosine to fumarate</p> Signup and view all the answers

    What characterizes the urinary changes in a patient with alkaptonuria?

    <p>Darkening of urine upon standing</p> Signup and view all the answers

    What condition is characterized by maternal imprinting and leads to obesity and mental impairment?

    <p>Prader-Willi syndrome</p> Signup and view all the answers

    Which of the following correctly describes the role of aldose reductase in diabetic complications?

    <p>Converts glucose to sorbitol, leading to osmotic damage</p> Signup and view all the answers

    What distinguishes cataracts associated with classic galactosemia from those linked to diabetes?

    <p>They are caused by galactitol accumulation</p> Signup and view all the answers

    In chronic granulomatous disease, which type of organisms pose increased susceptibility due to NADPH oxidase deficiency?

    <p>Catalase-positive organisms</p> Signup and view all the answers

    Which statement about the inheritance pattern of Angelman syndrome is true?

    <p>It is caused by a deletion in the paternal UBE3A gene</p> Signup and view all the answers

    What is the primary effect of statins on endothelial cells?

    <p>Exhibiting antioxidant properties</p> Signup and view all the answers

    Which symptom is most closely associated with hereditary fructose intolerance?

    <p>Jaundice and cirrhosis</p> Signup and view all the answers

    What is a significant complication of galactokinase deficiency?

    <p>Infantile cataracts</p> Signup and view all the answers

    What is the effect of combining fibrates with statins?

    <p>Decreased myopathy risk</p> Signup and view all the answers

    What is the primary source of symptoms in a patient with isolated type 4 dyslipidemia?

    <p>Hepatic overproduction of VLDL</p> Signup and view all the answers

    In classic galactosemia, what metabolic pathway is disrupted?

    <p>Lactose metabolism</p> Signup and view all the answers

    What dietary component must individuals with fructose disorders avoid?

    <p>Table sugar</p> Signup and view all the answers

    What is a characteristic of the presentation of essential fructosuria?

    <p>Asymptomatic with reducing sugar in urine</p> Signup and view all the answers

    What is the consequence of a mutation in the CFTR gene in cystic fibrosis?

    <p>Production of a misfolded CFTR channel retained in the RER</p> Signup and view all the answers

    Which statement is true regarding the testing of Down syndrome?

    <p>CVS can be conducted as early as 10 weeks</p> Signup and view all the answers

    What complication is commonly associated with cystic fibrosis?

    <p>Congenital bilateral absence of vas deferens</p> Signup and view all the answers

    Which of the following features is characteristic of Edward syndrome?

    <p>Clenched hands</p> Signup and view all the answers

    What is a common respiratory issue associated with Kartagener syndrome?

    <p>Reduction in ciliary motion</p> Signup and view all the answers

    What type of mutation is primarily seen in Becker muscular dystrophy?

    <p>Missense or deletion/insertion mutation</p> Signup and view all the answers

    Which of the following is associated with uncoupling agents in the electron transport chain?

    <p>Increased oxygen consumption</p> Signup and view all the answers

    In Duchenne muscular dystrophy, what is the first area affected?

    <p>Hips</p> Signup and view all the answers

    What is the primary clinical feature of Osteogenesis imperfecta?

    <p>Multiple fractures</p> Signup and view all the answers

    What is the most accurate lab finding for Down syndrome observed in the second trimester?

    <p>Decreased AFP</p> Signup and view all the answers

    Which of the following statements about type I collagen is true?

    <p>Present in the skin and bone</p> Signup and view all the answers

    Which type of familial dyslipidemia is characterized by LPL deficiency?

    <p>Type 1</p> Signup and view all the answers

    What is the key mechanism that leads to fractures in osteopetrosis?

    <p>Decreased osteoclast activity</p> Signup and view all the answers

    Which of the following traits is not typically observed in cystic fibrosis?

    <p>Absence of mutations in the CFTR gene</p> Signup and view all the answers

    What is a likely clinical presentation of a patient with Patau syndrome?

    <p>Holoprosencephaly and polydactyly</p> Signup and view all the answers

    Which condition is characterized by hexagonal cystine stones in the renal tubes?

    <p>Cystinuria</p> Signup and view all the answers

    What is a distinguishing feature of cystic fibrosis when compared to Kartagener syndrome?

    <p>Involvement of CFTR mutation</p> Signup and view all the answers

    How does Goodpasture syndrome primarily manifest?

    <p>Hemoptysis and hematuria</p> Signup and view all the answers

    What role does lysyl oxidase play in collagen maturation?

    <p>Crosslinks collagen fibrils</p> Signup and view all the answers

    What is the primary genetic cause of Stickler syndrome?

    <p>Mutation in COL2A1</p> Signup and view all the answers

    Which condition is marked by autoantibodies against type IV collagen?

    <p>Goodpasture syndrome</p> Signup and view all the answers

    What is the effect of vitamin C on collagen production?

    <p>It is necessary for hydroxylation</p> Signup and view all the answers

    What is the result of a deficiency in copper related to collagen?

    <p>Decreased crosslinking of collagen fibrils</p> Signup and view all the answers

    In Ehlers-Danlos syndrome, which of the following is a common complication?

    <p>Joint subluxations</p> Signup and view all the answers

    What is a prominent presentation of Alport syndrome?

    <p>Red urine</p> Signup and view all the answers

    What is the main consequence of a defect in type III collagen?

    <p>Abnormal vessel structure</p> Signup and view all the answers

    What treatment is most effective in alleviating symptoms of cystinuria?

    <p>Citrate</p> Signup and view all the answers

    What is the most significant consequence of Vitamin B6 deficiency in patients undergoing treatment with isoniazid for tuberculosis?

    <p>Neuropathy and seizures</p> Signup and view all the answers

    What dietary patterns are most likely to lead to a folate deficiency characterized by elevated MCV?

    <p>Low consumption of dark green leafy vegetables</p> Signup and view all the answers

    How does increased serotonin synthesis affect tryptophan and niacin synthesis?

    <p>Increased serotonin depletes tryptophan, leading to decreased niacin synthesis</p> Signup and view all the answers

    Which of the following describes a primary deficiency consequence of Vitamin B5?

    <p>Burning feet syndrome</p> Signup and view all the answers

    Which condition is primarily associated with a deficiency of both Vitamin B9 and B12?

    <p>Megaloblastic anemia with hypersegmented neutrophils</p> Signup and view all the answers

    What is a common reason for biotin (Vitamin B7) deficiency in the diet?

    <p>Regular consumption of raw egg whites</p> Signup and view all the answers

    Which vitamin is essential as a cofactor for cystathionine synthase and heme synthesis?

    <p>Vitamin B6 (Pyridoxine)</p> Signup and view all the answers

    Which vital reactions does Vitamin B12 participate in within the body?

    <p>Conversion of homocysteine to methionine and methylmalonyl-CoA to succinyl-CoA</p> Signup and view all the answers

    Which condition is characterized by decreased glucose-6-phosphatase enzyme activity?

    <p>Von Gierke disease</p> Signup and view all the answers

    What is the unique feature of McArdle disease?

    <p>Painful muscle cramps after intense exercise</p> Signup and view all the answers

    What is the main defect in homocystinuria?

    <p>Deficiency of cystathionine synthase</p> Signup and view all the answers

    What is a significant clinical feature of Kwashiorkor?

    <p>Hypoalbuminemia and ascites</p> Signup and view all the answers

    Which enzyme in the hexose monophosphate (HMP) shunt is crucial for NADPH production?

    <p>Glucose-6-phosphate dehydrogenase</p> Signup and view all the answers

    In lactase deficiency, what abnormality is typically observed in a biopsy?

    <p>Normal appearing villi</p> Signup and view all the answers

    Which of the following is a potential treatment for homocystinuria?

    <p>Cysteine and pyridoxine</p> Signup and view all the answers

    What is the hallmark presentation of a patient with maple syrup urine disease?

    <p>Sweet-smelling urine</p> Signup and view all the answers

    What is a common feature of Marfan syndrome?

    <p>Tall stature and long extremities</p> Signup and view all the answers

    Which condition is primarily caused by thiamine deficiency?

    <p>Alpha-ketoacid dehydrogenase deficiency</p> Signup and view all the answers

    What is the mechanism of action of lactulose in hyperammonemia treatment?

    <p>Facilitates the excretion of ammonia from the gut</p> Signup and view all the answers

    What is the primary issue in Fanconi syndrome?

    <p>Increased amino acid loss in urine</p> Signup and view all the answers

    What is a typical presentation of binge eating disorder?

    <p>Eating large amounts of food in a discrete period</p> Signup and view all the answers

    Study Notes

    Alpha1 antitrypsin deficiency

    • Inheritance: Co-dominant, not recessive
    • Liver production: Produced in the liver
    • Elastase breakdown: Breaks down elastase; build-up of elastase leads to emphysema
    • Sequestration: Sequestered in the liver
    • Disease presentation: Young, non-smokers
    • Hepatic cirrhosis: Can cause hepatic cirrhosis
    • Pan-acinar emphysema: Occurs in the entire respiratory zone
    • Smoking and emphysema: Smoking increases elastase activity, contributing to emphysema
    • Cellular accumulation: Accumulation of misfolded glycoproteins in the ER leads to hepatocyte death and cirrhosis
    • Increased elastase and emphysema: Increased elastase in the lungs leads to emphysema

    Abetalipoproteinemia

    • ApoB-48 and ApoB100 deficiency: Deficiency of ApoB-48 and ApoB100
    • Chylomicron release: ApoB48 allows for release of chylomicrons into circulation
    • Fat droplets in bowel wall: Fat droplets in the bowel wall
    • Decreased fat absorption: Decreased fat absorption
    • Increased steatorrhea: Increased steatorrhea
    • Decreased fat-soluble vitamins: Vitamin A deficiency leads to retinitis pigmentosa and Vitamin E deficiency leads to spinocerebellar degeneration
    • Acanthocytes (spur cells): Leads to acanthocytes (spur cells)
    • Liver failure: Acanthocytes (spur cells) also observed in liver failure

    Aldose reductase + sorbitol + galactitol

    • Glucose to sorbitol: Glucose is converted to sorbitol
    • Galactose to galactitol: Galactose is converted to galactitol
    • Diabetes complications: Neuropathy, cataracts, nephropathy, retinopathy, and atherosclerosis from osmotic injury to cells and non-enzymatic glycosylation
    • Galactosemia and cataracts: Cataracts in galactose disorders are due to galactitol not sorbitol
    • Classic galactosemia: Cataracts + hepatomegaly + jaundice

    Alkaptonuria

    • Homogentistic oxidase deficiency: Caused by homogentistic oxidase deficiency, an enzyme needed for the breakdown of tyrosine to fumarate

    Angelman vs Prader-Willi syndromes

    • Imprinting: Imprinting means receiving one allele from each parent but one is preferentially silenced.
    • Maternal imprinting: In Prader-Willi syndrome, maternal imprinting silences the mother's allele.
    • Uniparental disomy: Uniparental disomy means both of an individual's alleles for a gene are received from the same parent rather than one from each parent to create a disorder.
    • Maternal/Prader-Willi Chromosome 15: Chromosome 15, obese, mental impairment, hyperphagia, due to maternal imprinting or maternal uniparental disomy.
    • Paternal imprinting/Angelman Chromosome 15: Chromosome 15, mental impairment, easily made happy, due to paternal imprinting or paternal uniparental disomy.
    • Angelman syndrome: Mom's gene is silenced/dad's defective gene is causing the disorder.

    Chronic Granulomatous Disease

    • NADPH oxidase deficiency: Chronic Granulomatous disease (CGD) is due to NADPH oxidase deficiency
    • Oxidizing drugs: Susceptible to oxidizing drugs like dapsone and primaquine because of decreased NADPH production.
    • Cellular damage: Their RBC membranes are more prone to lysis.

    Myeloproxidase

    • AML composition: Composed of myeloperoxidase
    • Leukemia and DIC: Release of myeloperoxidase into the blood during leukemia can lead to Disseminated Intravascular Coagulation (DIC)
    • Sputum color: Myeloperoxidase gives sputum its color.

    Collagen I, Osteogenesis imperfecta, and Osteopetrosis

    • Collagen I: Found in skin and bone, involved in late wound repair.
    • Osteogenesis imperfecta: Caused by deficiency of type 1 collagen (COL1A genes).
    • Osteoclast activity and increased bone density: Decreased osteoclast activity causes increased bone density.
    • Calcium, phosphate and PTH: These are normal in both osteoporosis and osteopetrosis.

    Collagen II, III, and Ehlers-Danlos syndrome

    • Type II collagen: Found in cartilage, nucleus pulposus and vitreous body.
    • Stickler syndrome and defects: Defect in type II collagen. Mutations in COL2A1.
    • Deafness and ocular problems: Defect in type II collagen (COL2A1) leads to deafness and ocular problems.
    • Type III collagen: Found in granulation tissue, blood vessels, and fetal tissue.
    • Ehler's danlos syndrome: Due to type III collagen defects or pro-collagen peptidase deficiency.

    Other Collagen Information

    • Granulation tissue: Found in early wound healing
    • Keloid scars: Keloid scars have increased type III collagen
    • Aortic complications: Increased risk of aortic aneurysm, mitral valve prolapse, aortic regurg, and willis berry aneurysms.
    • Subarachnoid hemorrhage: Increased risk of subarachnoid hemorrhage from weakness in the aorta.
    • Basement membranes and basal lamina: Found in basement membranes, basal lamina, lens of the eye, alveoli, and glomeruli.
    • Laminin: Laminin binds to type IV collagen
    • Alport syndrome: Mutation in type IV collagen (COL4)
    • Goodpasture syndrome: Autoantibodies against IV collagen (anti-glomerular basement)
    • Progression: Linear immunofluorescence, fibrin crescents, and rapid/progressive glomerular nephritis

    Collagen Production

    • Glycine: Most abundant amino acid in collagen
    • Preprocollagen: Preprocollagen formation, hydroxylation (vitamin C needed), glycosylation, triple helix formation, exocytosed to form tropocollagen.
    • Collagen fibrils: Collagen fibrils are crosslinked via lysyl oxidase to make mature collagen.
    • Copper dependent enzyme: Lysyl oxidase is copper dependent. Deficiency leads to menkes syndrome.
    • Wrinkles due to aging: Reduced fibril production leads to wrinkles.

    Cystinuria

    • Cysteine molecules: Two cysteine molecules bound together by a disulfide bond
    • Kidney reabsorption: Inability to reabsorb cysteine in the proximal convoluted tubule.
    • Kidney stones: Caused by cysteine stones in the renal tubules.

    Cystic Fibrosis

    • Autosomal recessive: Autosomal recessive inheritance pattern.
    • Chromosome 7: Located on chromosome 7.
    • CFTR: cAMP regulated and ATP gated chloride channel.
    • Protein kinase A: Activated by cAMP to catalyze ATP hydrolysis.
    • Transmembrane components: CFTR has 12 transmembrane components.
    • Chloride: Increased chloride inside leads to cell drying and inspissation.
    • ENaC: Increased activation of ENaC.
    • Misfolded protein: Mutated cftr leads to production of cftr channel that is retained in the ER thus becoming misfolded.
    • Diuretics (causing similar effects): Loop diuretics.
    • Allelic heterogeneity: Different alleles cause the same disease.
    • Nasal TEPD: Less than 40 mV in CF patients.

    Other genetic information for disorders

    • Down Syndrome: Most common cause of mental retardation over age 40.
    • Other syndromes: Specific conditions associated with various deficiencies.
    • Genetic errors: Gene mutations causing the disorders.

    Electron transport chain

    • Uncoupling agents: 2,4-dinitrophenol, ethanol, aspirin, and thermogenin.
    • H+ gradient: Uncoupling agent destroys the H+ gradient in the inner mitochondrial membrane.
    • Over activation of compensatory measures: Compensatory over activation measures to restore the H+ gradient yield heat if H+ gradient is destroyed
    • O2 Consumption and ATP ratio: Uncoupling agents increase O2 consumption and ATP generation ratio.

    Familial Dyslipidemias

    • Type 1 and 2a: LPL deficiency and LDL receptor deficiency leading to TG accumulation, and LDL buildup, respectively
    • Type 2b: LDL-receptor deficiency leading to high LDL
    • Type 3: ApoE deficiency leading to remnant buildup, both chylomicrons and VLDL
    • Type 4: VLDL overproduction leading to high triglycerides
    • Other types: Various conditions associated with lipid metabolism issues and resulting defects.

    Fructose disorders

    • Essential fructosuria: Deficiency of fructokinase. Asymptomatic presentation.
    • Hereditary fructose intolerance: Deficiency of aldolase B. Build-up of fructose 1- phosphate leading to jaundice, cirrhosis, and hypoglycemia.

    Galactose disorders

    • Galactokinase deficiency: Deficiency of galactokinase. Milder presentation, infantile cataracts, and galactose in urine.
    • Classic galactosemia: Deficiency of galactose-1-phosphate uridylyl transferase. Severe presentation: hepatosplenomegaly, jaundice, and mental impairment.

    Gluconeogenesis

    • Pyruvate/OAA Conversion: Starting point, converting pyruvate to OAA.
    • Biotin (B7) enzyme: Biotin (B7) dependent enzyme in conversion.
    • Acetyl-CoA as positive regulator: Acetyl-CoA serves as a positive regulator to the enzyme
    • PEP carboxykinase: Converts OAA to PEP .
    • Fructose-1,6-bisphosphate: Rate-limiting enzyme
    • Glucose-6-phosphatase: Step to produce glucose
    • Von Gierke disease: Deficiency in glucose-6-phosphatase enzyme; results in hepato-megaly and fasting hypoglycemia and increased lactate.

    Other metabolic disorders

    • Cori disease: Deficiency in alpha-1,6-glucosidase, increase glucose after fructose.
    • Pompe disease: Deficiency in lysosomal debranching alpha-1,4 glucosidase; a heart disorder.
    • McArdle disease: Deficiency in muscle glycogen phosphorylase.
    • Hartnup disease: Decreased absorption of nonpolar amino acids.
    • Fanconi syndrome: Decreased reabsorption of amino acids, glucose, bicarbonate, and phosphate.

    Vitamin deficiencies

    • Vitamin A: Important role in vision.
    • Vitamin C: Deficiency leads to scurvy.
    • Vitamin D: Deficiency leads to rickets/osteomalacia.
    • Vitamin K: Deficiency leads to a prolonged PT/aPTT.

    Mitochondrial disorders

    • Ragged red fibres: Seen in mitochondrial disorders.
    • Heteroplasmy: Presence of more than one type of mitochondrial DNA.
    • Maternal inheritance: Mitochondrial disorders are usually inherited maternally.

    Phenylketonuria (PKU)

    • Phenylalanine hydroxylase deficiency: Classic PKU involves a deficiency in phenylalanine hydroxylase.
    • Tetrahydrobiopterin deficiency: Malignant PKU involves tetrahydrobiopterin deficiency.
    • Treatment: Decreased phenylalanine and increased tyrosine to prevent buildup.
    • Complication of treatment: In malignant PKU, tyrosine can't be converted to LDOPA/dopamine, leading to potential hyperprolactinemia.

    Phakmatoses

    • Neurocutaneous disorders: These conditions are associated with multiple tumors and developmental problems, along with various other symptoms.

    Vitamin B deficiencies

    • Thiamine deficiency: Causes Wernicke encephalopathy and other symptoms.
    • B6 deficiency: Causes seizures and other neurological symptoms.

    Urea cycle disorders

    • Arginase deficiency: Results in excess arginine.
    • Ornithine transcarbamylase (OTC) deficiency: Results in excess ammonia.
    • Treatment: Supportive care, and appropriate dietary modifications.

    Other disorders

    • Cystic fibrosis/Kartagener syndrome: Diagnosis, symptoms, and treatments.
    • Alport syndrome/Goodpasture syndrome: Specific details of the syndromes and their effects.
    • Down syndrome, Edward syndrome, and Patau syndrome: Specific details regarding these syndromes.

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    USMLE Biochemistry Notes PDF

    Description

    This quiz explores the genetic disorders Alpha1 antitrypsin deficiency and Abetalipoproteinemia, focusing on their inheritance patterns, physiological impacts, and disease presentations. Test your understanding of the functions of these proteins and their effects on the body, including emphysema and hepatic cirrhosis.

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