Inherited Metabolic Disorders Overview
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Questions and Answers

What is a key symptom of the condition associated with elevated levels of homocysteine?

  • Downward dislocation of the lens (correct)
  • Abdominal pain
  • Irregular heartbeat
  • Nausea and diarrhea

    • Which treatment is appropriate for managing homocystinuria?

  • High protein diet
  • Dietary restriction of branched-chain amino acids (correct)
  • Use of glucogenic amino acids
  • Supplementation with vitamin D

    • What defect is present in a patient with glutaric aciduria type I?

  • Inability to convert phenylalanine to tyrosine
  • Defect in cystathionine synthase
  • Deficiency in branched-chain keto acid dehydrogenase
  • Deficiency in glutaryl CoA dehydrogenase (correct)

    • Which of the following is NOT a symptom of homocystinuria?

    <p>Severe metabolic acidosis</p> Signup and view all the answers

    What characterizes organic acids in the context of organic aciduria?

    <p>They are water soluble and ninhydrin stain negative</p> Signup and view all the answers

    What is a common clinical symptom associated with mitochondrial disorders?

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

    Which of the following is a biochemical feature of mitochondrial disorders?

    <p>Lactic acidosis</p> Signup and view all the answers

    What morphological feature is typically observed in muscle biopsy of individuals with Electron Transport Chain deficiency?

    <p>Ragged red fibers</p> Signup and view all the answers

    In the case of the 'three-parent baby', what crucial procedure was performed to prevent mitochondrial disease?

    <p>Mitochondrial transfer</p> Signup and view all the answers

    Which complex is primarily involved in the generation of chemical energy through oxidative phosphorylation?

    <p>Electron transport chain</p> Signup and view all the answers

    Which mitochondrial defect is NOT associated with congenital lactic acidemias?

    <p>Fructose-1,6-bisphosphatase deficiency</p> Signup and view all the answers

    Which condition is NOT associated with hypoglycaemia?

    <p>Respiratory chain disorders</p> Signup and view all the answers

    What is a common presentation of pyruvate carboxylase deficiency?

    <p>Severe neonatal seizures</p> Signup and view all the answers

    What substrate is NOT utilized in gluconeogenesis?

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

    Which of the following diagnoses would most likely show elevated lactate levels?

    <p>Krebs cycle enzyme deficiencies</p> Signup and view all the answers

    Which enzyme deficiency would likely present with hepatomegaly and coma?

    <p>Fructose-1,6-bisphosphatase deficiency</p> Signup and view all the answers

    Which condition is characterized as extremely rare among gluconeogenesis disorders?

    <p>PEP carboxykinase deficiency</p> Signup and view all the answers

    What is the primary role of gluconeogenesis?

    <p>To synthesize glucose from non-carbohydrate substrates</p> Signup and view all the answers

    Which of the following intermediates is part of the gluconeogenesis pathway?

    <p>Fructose-1,6-bisP</p> Signup and view all the answers

    Which statement about fatty acid oxidation disorders is true?

    <p>They are primarily mitochondrial defects.</p> Signup and view all the answers

    What primarily influences the timing of presentation of metabolic disorders?

    <p>Environmental factors and product deficiency</p> Signup and view all the answers

    What characterizes disorders of carbohydrate or protein metabolism and energy production?

    <p>They are often unrelenting and rapidly progressive</p> Signup and view all the answers

    What type of metabolic disorders tend to present with more subtle symptoms during infancy?

    <p>Fatty acid oxidation disorders</p> Signup and view all the answers

    What is the purpose of newborn screening?

    <p>To detect conditions before any symptoms appear</p> Signup and view all the answers

    Group 1 disorders primarily lead to which clinical outcome?

    <p>Intoxication due to toxic compound accumulation</p> Signup and view all the answers

    Which of the following is NOT classified as an amino acidopathy?

    <p>Methylmalonic aciduria</p> Signup and view all the answers

    What is a common clinical sign of acute intoxication in metabolic disorders?

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

    The 'heel-prick' test is primarily used to screen for what?

    <p>Metabolic and genetic disorders</p> Signup and view all the answers

    Which of the following is NOT a condition associated with Group 1 metabolic disorders?

    <p>Mitochondrial defects</p> Signup and view all the answers

    What odor characteristic is associated with alkaptonuria?

    <p>Musty odor</p> Signup and view all the answers

    What is a characteristic symptom of pyruvate dehydrogenase deficiency?

    <p>Progressive encephalopathy</p> Signup and view all the answers

    What is the primary underlying cause of Glycogen Storage Disorders?

    <p>Defect in genes coding for enzymes</p> Signup and view all the answers

    Which enzyme is responsible for phosphorylating galactose?

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

    What is a common sign of glycogen storage disorders?

    <p>Muscle pain and weakness</p> Signup and view all the answers

    Which of the following conditions is classified as autosomal recessive?

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

    What occurs as a result of excess galactose in galactokinase deficiency?

    <p>Cataracts formation</p> Signup and view all the answers

    What is a common dietary source of galactose?

    <p>Lactose from milk products</p> Signup and view all the answers

    What can accumulate in the body due to galactose metabolism disorders?

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

    What condition is characterized by elevated levels of both methionine and homocysteine in the blood and urine?

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

    What is a notable symptom in a child diagnosed with homocystinuria?

    <p>Downward dislocation of the lens</p> Signup and view all the answers

    Which compound accumulates due to a defect in cystathionine synthase?

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

    Which clinical symptom is associated with glutaric aciduria type I?

    <p>Dystonia and dyskinesia</p> Signup and view all the answers

    What is the primary metabolic defect in glutaric aciduria type I?

    <p>Deficiency in glutaryl CoA dehydrogenase</p> Signup and view all the answers

    What is the primary biochemical defect in Tay-Sachs disease?

    <p>Deficiency in Hexosaminidase A</p> Signup and view all the answers

    What is a significant symptom of Tyrosinemia Type-1?

    <p>Characteristic cabbage-like odor</p> Signup and view all the answers

    Which enzyme deficiency leads to the accumulation of homogentisic acid?

    <p>Homogentisic acid oxidase</p> Signup and view all the answers

    What dietary restriction is essential in managing Phenylketonuria (PKU)?

    <p>Low in Phenylalanine</p> Signup and view all the answers

    Which of the following conditions is associated with renal tubular acidosis?

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

    What is a defining feature of Maple Syrup Urine Disease (MSUD)?

    <p>Acute neurological crisis upon stress</p> Signup and view all the answers

    Which symptom is characteristic of alkaptonuria?

    <p>Ochronosis of the skin</p> Signup and view all the answers

    How does one diagnose Phenylketonuria (PKU)?

    <p>Newborn heel-prick test</p> Signup and view all the answers

    What is a consequence of hereditary fructose intolerance due to a deficiency of aldolase B?

    <p>Accumulation of fructose-1-P in tissues</p> Signup and view all the answers

    What symptom is commonly associated with hereditary fructose intolerance if left untreated?

    <p>Liver damage</p> Signup and view all the answers

    What metabolic role does fructose have in the body compared to glucose?

    <p>Bypasses a key regulatory step in glycolysis</p> Signup and view all the answers

    What occurs during essential fructosuria due to a genetic deficiency of fructokinase?

    <p>Benign accumulation of fructose in urine</p> Signup and view all the answers

    Which metabolic compound is produced from glyceraldehyde in fructose metabolism?

    <p>Glycerol-3-phosphate</p> Signup and view all the answers

    What dietary management is required for individuals with hereditary fructose intolerance?

    <p>Eliminate fructose from the diet</p> Signup and view all the answers

    What is one of the major fates of dihydroxyacetone phosphate (DHAP) in fructose metabolism?

    <p>Enters glycolysis or gluconeogenesis</p> Signup and view all the answers

    Which of the following statements is true regarding fructose metabolism?

    <p>It is a more rapid process compared to glucose metabolism.</p> Signup and view all the answers

    What outcome is primarily facilitated by early detection in newborn screening programs?

    <p>Better clinical outcomes with early treatment</p> Signup and view all the answers

    Which of the following conditions is associated with a significant accumulation of toxic metabolites?

    <p>Phenylketonuria (PKU)</p> Signup and view all the answers

    Which group of inherited metabolic disorders involves disturbances in the synthesis or catabolism of complex molecules?

    <p>Disorders involving complex molecules</p> Signup and view all the answers

    What characterizes the clinical presentation of Group 2 inherited metabolic disorders?

    <p>Rapid and progressive symptoms from birth</p> Signup and view all the answers

    What type of metabolic disorder is characterized by significant acute intoxication symptoms?

    <p>Urea cycle disorders</p> Signup and view all the answers

    Which metabolic disorder is associated with symptoms such as irritability and developmental delays?

    <p>Phenylketonuria (PKU)</p> Signup and view all the answers

    What is the main purpose of the 'heel-prick' test performed on infants?

    <p>To detect biochemical abnormalities early</p> Signup and view all the answers

    Which of the following disorders does NOT involve progressive accumulation of toxic compounds?

    <p>Mitochondrial disorders</p> Signup and view all the answers

    Which class of inborn errors of metabolism includes conditions like Methylmalonic aciduria and Propionic aciduria?

    <p>Group 1 disorders</p> Signup and view all the answers

    What environmental factor can exacerbate the onset and severity of metabolic disorders?

    <p>Dietary habits</p> Signup and view all the answers

    Which lysosomal disorder is associated with the deficiency of glucocerebrosidase?

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

    Which of the following disorders is inherited in an X-linked manner?

    <p>Hunter's disease</p> Signup and view all the answers

    What is a common symptom of Niemann-Pick disease?

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

    Which condition is characterized by developmental delay and early death in infants?

    <p>Tay-Sachs disease</p> Signup and view all the answers

    Which condition typically presents with distinctive facial features, hearing loss, and obstructive airway disease?

    <p>Hunter's disease</p> Signup and view all the answers

    What is a primary metabolic defect in Krabbe disease?

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

    Which lysosomal disorder affects the brain and is typically fatal by age 2-3 years?

    <p>Niemann-Pick disease</p> Signup and view all the answers

    What is a significant symptom of Metachromatic leukodystrophy?

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

    Which of the following statements is true regarding Fabry disease?

    <p>It primarily affects the heart and kidneys.</p> Signup and view all the answers

    Hurler's disease is known for which key characteristic?

    <p>Cloudy cornea</p> Signup and view all the answers

    What type of metabolic disorder are sphingolipidoses classified under?

    <p>Disorders involving complex molecules</p> Signup and view all the answers

    Which type of disorder is associated with Zellweger Syndrome?

    <p>Peroxisomal disorder</p> Signup and view all the answers

    Which enzyme is deficient in Tay-Sachs disease?

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

    Which condition’s typical presentations include developmental regression and organomegaly?

    <p>Hurler's disease</p> Signup and view all the answers

    What enzyme deficiency is responsible for the accumulation of homogentisic acid in alkaptonuria?

    <p>Homogentisic acid oxidase</p> Signup and view all the answers

    Which of the following clinical presentations is most indicative of Tyrosinemia Type-1?

    <p>Characteristic cabbage-like odor</p> Signup and view all the answers

    What dietary management is critical for patients diagnosed with Phenylketonuria (PKU)?

    <p>Low in Phenylalanine and supplemented with Tyrosine</p> Signup and view all the answers

    Which condition is associated with the deficiency of fumarylacetoacetate hydrolase?

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

    Which symptoms are characteristic of Maple Syrup Urine Disease (MSUD)?

    <p>Unpleasant odor and elevated amino acids in plasma</p> Signup and view all the answers

    What type of analysis is indicated for diagnosing Phenylketonuria in newborns?

    <p>Biochemical amino acid analysis</p> Signup and view all the answers

    What is the consequence of cofactor-related forms in metabolic disorders?

    <p>Deficiency in neurotransmitters and related symptoms</p> Signup and view all the answers

    What is the primary consequence of hereditary fructose intolerance due to aldolase B deficiency?

    <p>Accumulation of fructose-1-P in the cell</p> Signup and view all the answers

    Which compound is produced from glyceraldehyde during fructose metabolism?

    <p>Glycerol-3-phosphate</p> Signup and view all the answers

    What biochemical analysis would likely show elevated α-amino acids and their α-keto analogs?

    <p>Maple syrup urine disease analysis</p> Signup and view all the answers

    What is a characteristic symptom of essential fructosuria?

    <p>Presence of fructose in urine</p> Signup and view all the answers

    How does fructose metabolism differ from glucose metabolism in terms of energy production?

    <p>Fructose metabolism bypasses phosphofructokinase.</p> Signup and view all the answers

    Which metabolic pathway is primarily activated by the accumulation of Acetyl CoA from fructose metabolism?

    <p>Fatty acid synthesis</p> Signup and view all the answers

    What is a common challenge faced by patients with hereditary fructose intolerance when ingesting fructose?

    <p>Accumulation of fructose and its metabolites</p> Signup and view all the answers

    What is the typical treatment approach for managing hereditary fructose intolerance?

    <p>Dietary restriction of sucrose and fructose</p> Signup and view all the answers

    In a Western diet, what percentage of calories typically comes from fructose?

    <p>10%</p> Signup and view all the answers

    What is one potential consequence of delayed presentation in metabolic disorders?

    <p>Increased likelihood of developmental delay</p> Signup and view all the answers

    Which group of disorders primarily involves a deficiency of energy production?

    <p>Mitochondrial dysfunctions</p> Signup and view all the answers

    What is the primary goal of newborn screening?

    <p>To prevent clinical manifestations</p> Signup and view all the answers

    Which of the following symptoms is commonly associated with chronic intoxication in metabolic disorders?

    <p>Failure to thrive</p> Signup and view all the answers

    Which metabolic disorder is characterized by a lack of phenylalanine hydroxylase activity?

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

    What type of clinical presentation is most likely to be observed in fatty acid oxidation disorders?

    <p>Acute metabolic decompensation</p> Signup and view all the answers

    What primary abnormality is associated with lysosomal storage disorders?

    <p>Accumulation of undigested macromolecules</p> Signup and view all the answers

    What is a common symptom of acute intoxication due to metabolic disorders?

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

    Which of the following conditions could be identified through a heel-prick test?

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

    Group 1 disorders in inherited metabolic diseases principally lead to which clinical feature?

    <p>Progressive accumulation of toxins</p> Signup and view all the answers

    What is the primary metabolic process involved in synthesizing glucose from non-carbohydrate substrates?

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

    Which enzyme deficiency is associated with hypoglycemia and acute onset presentation characterized by hepatomegaly?

    <p>Fructose-1,6-bisphosphatase</p> Signup and view all the answers

    Which of the following deficiencies is notably associated with lactic acidosis and ketosis?

    <p>Pyruvate carboxylase</p> Signup and view all the answers

    What is the role of lactate in gluconeogenesis?

    <p>Acts as a precursor due to its source from anaerobic glycolysis</p> Signup and view all the answers

    Which of the following conditions is characterized as extremely rare among disorders of gluconeogenesis?

    <p>PEP carboxykinase deficiency</p> Signup and view all the answers

    Which statement best describes the symptoms associated with pyruvate carboxylase deficiency?

    <p>Presents with psychomotor retardation and severe lactic acidosis</p> Signup and view all the answers

    What are the typical biochemical markers present in gluconeogenesis disorders?

    <p>Elevated levels of lactate and ketosis</p> Signup and view all the answers

    In the context of metabolic disorders, which compound acts as a critical link between carbohydrate and fat metabolism?

    <p>Acetyl-CoA</p> Signup and view all the answers

    During fasting, which substrate is primarily utilized for gluconeogenesis?

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

    Which of the following is NOT typically associated with congenital lactic acidemias?

    <p>Fructose-1,6-bisphosphatase deficiency</p> Signup and view all the answers

    Which enzyme deficiency is associated with Krabbe's disease?

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

    What is a key symptom of Gaucher's disease?

    <p>Bone pain</p> Signup and view all the answers

    Which disorder is characterized by the accumulation of GM2 gangliosides?

    <p>Tay-Sachs disease</p> Signup and view all the answers

    Which disorder is categorized as an X-linked condition?

    <p>Hunter’s disease</p> Signup and view all the answers

    What is a common presentation in Hurler's disease?

    <p>Coarse facial features</p> Signup and view all the answers

    Metachromatic leukodystrophy is caused by a deficiency in which enzyme?

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

    Which of the following disorders primarily affects the central nervous system?

    <p>Niemann-Pick disease</p> Signup and view all the answers

    What symptom is often seen in Fabry's disease?

    <p>Paraesthesia in limbs</p> Signup and view all the answers

    Which disorder, classified under mucopolysaccharidosis, is associated with distinctive facial features and hearing loss?

    <p>Hunter's disease</p> Signup and view all the answers

    What type of symptoms are typical for disorders classified under Group 2 in the metabolic disorder categorization?

    <p>Energy metabolism issues</p> Signup and view all the answers

    Which of the following conditions is NOT a sphingolipidosis?

    <p>Hurler's disease</p> Signup and view all the answers

    Which symptom is associated with metachromatic leukodystrophy?

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

    Niemann-Pick disease is primarily inherited in which manner?

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

    Which type of metabolic disorder is characterized by a buildup of complex molecules?

    <p>Group 3</p> Signup and view all the answers

    Study Notes

    Timing of Presentation

    • Presentation of inherited metabolic disorders (IEMs) depends on factors like the accumulation of toxic metabolites and deficiencies of essential products.
    • Environmental factors like diet and intercurrent illnesses can worsen the onset and severity of these disorders.
    • IEMs affecting carbohydrate or protein metabolism often present in the neonatal period or early infancy, progressing rapidly.
    • Less severe variants of these disorders may present later in life and be episodic.
    • Fatty acid oxidation, glycogen storage, and lysosomal storage disorders tend to present insidiously in infancy or childhood with subtle neurological or psychiatric features, often going undiagnosed until adulthood.

    Newborn Screening

    • Early detection before clinical manifestations is critical for improving clinical outcomes.
    • Early treatment reduces morbidity and prevents premature mortality.
    • Newborn screening is typically performed at 3-5 days old using a "heel-prick" test, known as the "Guthrie" test.
    • This involves collecting a small blood sample from the heel and testing for biochemical abnormalities, genetic markers, and using mass spectrometry.

    Classification of Inherited Metabolic Disorders

    • Group 1: Disorders leading to intoxication: These disorders involve the accumulation of toxic compounds due to metabolic blocks, such as phenylketonuria (PKU), maple syrup urine disease (MSUD), and organic acidurias.
    • Group 2: Disorders involved in energy metabolism: These disorders affect intermediary metabolism, with symptoms resulting from energy deficiencies. They involve mitochondrial or cytoplasmic energy defects.
    • Group 3: Disorders involving complex molecules: These disorders affect cellular organelles and involve disturbed synthesis or catabolism of complex molecules, including lysosomal storage disorders, peroxisomal disorders, and congenital disorders of glycosylation.

    Disorders Leading to Intoxication (Group 1)

    • These disorders share clinical similarities, such as a symptom-free interval after birth.
    • They may also present with:
      • Acute signs: Vomiting, coma, liver failure
      • Chronic signs: Failure to thrive, developmental delay, ectopia lentis (dislocation of the lens)
    • Many of these disorders are treatable by removing the toxic metabolites from the body.
    • This group includes:
      • Amino acidopathies:
        • Phenylketonuria (PKU)
        • Maple Syrup Urine Disease
        • Homocystinuria
        • Tyrosinemia
      • Organic acidurias:
        • Methylmalonic aciduria
        • Propionic aciduria
        • Glutaric aciduria type 1
      • Urea cycle disorders:
        • Ornithine Transcarbamylase (OTC) deficiency
        • Citrullinaemia
      • Sugar intolerances:
        • Classical Galactosemia
        • Hereditary Fructose Intolerance
      • Metal intoxication:
        • Wilson's Disease
        • Menkes Disease
        • Hemochromatosis
      • Porphyrias

    Phenylketonuria (PKU)

    • Metabolism: PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to an accumulation of phenylalanine in the body.
    • Symptoms: Untreated PKU can cause vomiting, dehydration, severe metabolic acidosis, and a characteristic "mousy" odor in the urine. It can also lead to severe neurological complications.
    • Treatment: Dietary restriction of phenylalanine is essential for managing PKU.

    Homocystinuria

    • Cause: Homocystinuria is caused by a deficiency in the enzyme cystathionine synthase, leading to an accumulation of homocysteine in the body.
    • Symptoms: Homocystinuria can cause cardiovascular problems, deep vein thrombosis, thromboembolism, stroke, mental retardation, osteoporosis, and dislocation of the lens.
    • Diagnosis: Elevated levels of methionine and homocysteine in the blood and urine are suggestive of homocystinuria

    Organic Acidurias

    • Cause: Deficiency in the metabolism of lysine, hydroxylysine, and tryptophan.
    • Symptoms: Glutaric aciduria type 1 (GA1) can cause dystonia and dyskinesia.
    • Biochemistry: Accumulation of harmful organic acids.
    • Diagnosis: Elevated levels of organic acids in the urine.

    Disorders of Gluconeogenesis

    • These disorders are associated with hypoglycemia.
    • They include:
      • Pyruvate carboxylase deficiency
      • Fructose-1,6-bisphosphatase deficiency
      • PEP carboxykinase deficiency

    Mitochondrial Diseases

    • Cause: Defects in the mitochondrial electron transport chain or in enzymes involved in oxidative phosphorylation.
    • Clinical features: Encephalopathies, myopathies, cardiomyopathies.
    • Biochemical features: Elevated lactate levels in blood and cerebrospinal fluid.
    • Morphological features: Ragged red fibers (RRF) may be present in muscle biopsies.
    • Diagnosis: Analysis of mitochondrial DNA.

    Pyruvate Dehydrogenase Deficiency (PDH)

    • Cause: Deficiency in the enzyme pyruvate dehydrogenase, which is essential for converting pyruvate to acetyl-CoA.
    • Presentation: Progressive encephalopathy, brain malformation, psychomotor retardation, muscular hypotonia, epilepsy.
    • Diagnosis: Increased plasma lactate and pyruvate levels. Enzyme analysis in fibroblasts and muscle is used to confirm the diagnosis.

    Storage Disorders

    • Cause: Genetic diseases characterized by the abnormal accumulation of lipids or carbohydrates.
    • Glycogen Storage Disorders (GSDs): These disorders involve abnormal synthesis or degradation of glycogen due to defects in enzymes involved in glycogen metabolism.
    • Symptoms: Hypoglycemia, muscle pain, cramps, and weakness are common.
    • Treatment: Varying depending on the specific type of GSD.

    Galactose Metabolism

    • Galactose-1-phosphate uridyl transferase (GALT) deficiency: This deficiency leads to classical galactosemia.
    • Symptoms: Vomiting, diarrhea, jaundice, failure to thrive, liver damage, mental retardation, cataracts, and neurological abnormalities are common in untreated cases.
    • Treatment: Early detection and removal of galactose from the diet.

    Galactokinase Deficiency

    • Cause: Autosomal recessive deficiency in the enzyme galactokinase
    • Symptoms: Elevated galactose levels in the blood and urine. Excess galactose is converted to galactitol which can cause cataracts.
    • Treatment: Dietary restriction of galactose.

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    This quiz covers the timing of presentation for inherited metabolic disorders, including various factors influencing onset and severity. It also addresses the importance of newborn screening for early detection and treatment of these conditions, which can significantly improve clinical outcomes.

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