Metabolic Disorders Lecture Notes PDF

MNT in Metabolic Disorders Nutrition Therapy 2  Also called “reactive/stimulative/spontaneous hypoglycemia” Decrease in blood sugar concentration due to hypersecretion of insulin Carbohydrate intake stimulates pancreas to secret...

MNT in Metabolic Disorders Nutrition Therapy 2  Also called “reactive/stimulative/spontaneous hypoglycemia” Decrease in blood sugar concentration due to hypersecretion of insulin Carbohydrate intake stimulates pancreas to secrete higher than normal levels of insulin A. Consequence: hypoglycemia occurs 2-4 hours after meals Functional There is no hypoglycemia following fasting & omission Hypoglyce- of meals mia Symptoms: Headache Tremor Sweating Hunger Rapid heartbeat  Dietary Management Adequate calories Carbohydrate restriction is not necessary but refined carbohydrates should be avoided, especially sugars & A. concentrated sweets Functional Protein & fat should be taken whenever carbohydrate is consumed to delay gastric emptying & to blunt the Hypoglyce- post-prandial insulin response to carbohydrate mia Rather than 3 large meals, it is better to divide the daily food allowance into six small protein-containing meals A diet high in fiber is beneficial in controlling blood glucose levels Restrict alcohol & caffeine according to tolerance Low carbohydrate to prevent insulin secretion High protein, high fat, MUFA to serve as glucose sources  Decrease in blood sugar due to overdose of insulin, alcohol, tremors, hepatic disease and CRI Blood sugar level is below 60mg before breakfast & after fasting B. Fasting Becomes more severe if carbohydrate intake is Hypoglyce- restricted mia Dietary management: High CHO to increase the blood sugar level Simple sugars will rapidly correct symptoms Provide a constant & regular supply of glucose with small frequent feedings high in carbohydrates & protein  An excessive secretion of thyroxine – the hormone that regulates BMR Characteristics: C. Weight loss Hyperthy-roi Engorgement of eyes Enlargement of thyroid glands dism Increased appetite Increased BMR (at least 50%) Heat intolerance  Management: C. Medical: Anti-thyroid drugs, surgery Hyperthy-roi Dietary: High kcal for increased BMR dism Supplementation  Deficient production of thyroxine due to lack of iodine “cretinism” for children, “myxedema” for adults D. Characteristics: Hypothy-roi Decreased BMR (30-40%) Weight gain dism Puffy face, eyelids, hands Muscular flabbiness Fatigue Cold intolerance  Management: D. Medical: thyroxine Hypothy-roi Dietary: Low calorie to prevent weight gain due to low BMR dism Iodine for iodine deficiency Foods high and low in iodine See page 259 E. Hypersecretion of the parathyroid gland characterized by hypercalcemia Hyperpara-t Nausea, irritability, vomiting, osteoporosis, hyroidism lethargy, kidney stones and constipation  Dietary management: Phosphate binders to lower Ca levels E. High fluid intake to prevent formation of Ca-containing renal stones Hyperpara-t Na (IV) to promote renal clearance and Ca excretion hyroidism Acid-ash diet – acidifies urine and prevent Ca-stone formation PO4 – promotes deposition of Ca into the skeleton  Hyposecretion of the PTH characterized by F. hyperirritability of the nervous system as manifested by convulsions, cramps, muscle Hypopara-th twitching and spasms yroidism Etiology: Absence or abnormality of the PTH  Increases renal calcium retention Increases renal phosphate excretion Nutritional Stimulates intestinal calcium absorption & metabolic Stimulates bone resorption actions of Stimulates bone anabolism PTH Stimulates kidney production of the active form of vitamin D F. Dietary management: Hypopara-th High calcium to normalize Ca levels High vitamin D for increased Ca absorption yoidism  Hyposecretion of the adrenal cortex Low aldosterone and cortisol Characteristics: Weight loss G. Addison’s Asthenia (body weakness) Hyperpigmentation Disease Arterial hypotension Hyponatremia and dehydration Hyperkalemia Increased glycogenolysis Decreased gluconeogenesis  Dietary management: G. Addison’s High Na to increase the level of Na Low K to control hyperkalemia Disease High kcal for underweight because loss of weight due to low supply of glucocorticosteroids  Hypersecretion of hormones in the adrenal cortex Characteristics: H. Cushing Weight gain Increased glycogenesis, gluconeogenesis, fatty acid Syndrome synthesis Hyperglycemia Truncal obesity, buffalo hump  Characteristics: Stimulation of appetite Low calcium levels Hypernatremia, edema, HPN H. Cushing Wasting Syndrome Menstrual changes Emotional changes Delayed wound healing hypokalemia  Dietary Management: H. Cushing Low Na Syndrome High K Low kcal for obese  Inability of the body to metabolize copper (Cu) because of lack of ceruloplasmin (transport protein of copper) I. Wilson’s Characteristics: Deposition of copper in the brain Disease Dietary mgt: copper-restricted to prevent Cu retention  Disorder in iron metabolism; deposition of J. hemosiderin (iron-storage complex) in liver and spleen; bronzed skin Hemo-chro matosis Dietary mgt: Fe-restricted because of increased storage of iron  Inborn error of metabolism is a genetic error that alters the production of protein Some of symptoms are fatal and irreversible Mechanism: J K. Inborn A🡪B🡪C🡪D🡪E🡪F Errors of Metabolism K G🡪H🡪I When an enzyme is missing: Lack of D, E, F Accumulation of C Accumulation of A & B Production of normally minor subs G, H, I  Management: K. Inborn Newborn Screening – blood test taken from a baby Errors of to identify those that are born with Metabolism metabolic/inherited problems; usually taken after a diet high in protein after 24 hours and before 7 days  Nutritional mgt: Restriction of substrate Supplementation of product K. Inborn Supplementation of enzyme or cofactor Combination of any or all of the methods listed Errors of above Metabolism Genetic or psychological counseling may be necessary  Nutritional care: K. Inborn Prevent accumulation of toxic metabolites Errors of Replace essential nutrients Provide a diet that normal growth, development Metabolism and maintenance  Assessment of treatment Regular monitoring of weight and growth pattern Regular monitoring and evaluation of food diary K. Inborn Careful and frequent monitoring of pertinent lab errors of tests Diet modifications are adjusted according to the metabolism earlier mentioned factors Continuous nutirtion education to the family K. Inborn Common diseases: errors of Phenylketonuria Galactosemia metabolism  Results from the deficiency of phenylalanine hydroxylase, which coverts phenylalanine to tyrosine Phenylketon Symptoms: Mental retardation uria Lack of pigmentation Apathy Poor physical development Death  Dietary mgt: Phenylketon Phenylalanine-restricted diet Restricts high-protein foods like meats, milk, uria poultry, cheese Allows fats, candies, jellies  Phenylketonuria (PKU) is a genetic metabolic disorder in which a baby is born without an important enzyme known as phenylalanine hydroxylase (PAH). PAH is necessary to break down an amino acid called phenylalanine (Phe), commonly found in most foods, into certain hormones, PKU neurotransmitters, and melanin. Patients with PKU have little to no PAH, and so they cannot digest and break down phenylalanine. A person with PKU cannot convert phenylalanine to tyrosine, Phe will accumulate , resulting in injury to nervous system In infants and in children up to age 6, accumulation of Phe leads to retarded mental development  Because phenylalanine is involved in the production of the pigment melanin, patients with PKU tend to have lighter skin, hair, and eyes than their siblings. Children born with PKU appear otherwise normal for the first few months. However, if untreated, phenylalanine can build up in the blood and cause severe and irreversible damage to the brain and nervous system. PKU Initial symptoms are a loss of interest in their surroundings, irritability, and behavioral problems. Later complications of untreated PKU include developmental delay, mental retardation, hyperactivity, psychological problems, seizures, and movement disorders. Affected individuals may also smell musty or mouse-like due to excess phenylalanine in the body  Symptoms: Mental retardation Lack of pigmentation PKU Apathy Poor physical development Death  Phenylketonuria is an autosomal recessive genetic disease. This means a person must have two faulty copy of PAH genes, which control the PAH enzyme, in order to develop PKU. Individuals who Inheritance carry only one faulty copy of the PAH gene are called “carriers”. of PKU Carriers do not show any signs or symptoms of the disease. If both parents are carrying the faulty copy of PAH gene, the chances for their offspring to have PKU disease is one in four or 25 %.  The main treatment for PKU is a lifelong specialized diet that is very low in phenylalanine, especially during childhood while the patient is growing. A special phenylalanine-free high-protein formula is available for babies with PKU. Unlike infant Diagnosis formula, this supplement is continued throughout and childhood and into adulthood as a safe protein source that balances the essential amino acids and Managemen nutrients, allowing for normal physical development. t Over time, certain vegetables, fruits, low-protein grains, and other low-phenylalanine foods are added to the child’s meal plan. No high-protein animal products are ever allowed. The artificial sweetener aspartame also contains phenylalanine, so “diet” drinks and foods must also be avoided.  If treatment is delayed or poorly followed, brain damage and developmental delays are likely. Diagnosis In addition to diet, there are medications that can and help reduce blood phenylalanine levels and increase the activity of the PAH enzyme. Manage-me nt Although they cannot replace adherence to a proper diet, these drugs are found to be useful for managing PKU in some patients.  Dietary mgt: Phenylalanine-restricted diet Phenyl-keto Restricts high-protein foods like meats, nuria milk, poultry, cheese Allows fats, candies, jellies  BH4 therapy: This medication can increase the activity of the enzyme (phenylalanine-hydroxylase) that does not work in people with PKU. Some people with PKU, especially those with milder forms, can lower their blood Phe levels with this medicine, and can sometimes eat more protein. BH4 is known commercially as Kuvan. New Large Neutral Amino Acid therapy: Treatments This medication may help keep Phe from entering your brain. However, this medication cannot replace diet during pregnancy. Formulas: There are many new formulas (medical foods), some of which taste better than the old formulas.  Results from lack of enzyme uridyl transferase, which catalyzes formation of glucose from galactose. This disease may result in increased concentration of galactose in blood. Galactosemi Galactose in blood is reduced in the eye to a galacticol, which accumulates and causes a cataract. Ultimately, if galactose continues to accumulate, liver failure and mental retardation will occur. This disease can be controlled by the administration of a diet free of galactose. Sackheim, George and Lehman, Dennis. (2002) Chemistry for the Health Sciences. 8th ed. Pearson Education Asia Pte Ltd, USA.  Failure to metabolize galactose into glucose because of the absence of galactose-1-phosphate uridyl transferase Galacto-sem Symptoms: Lactose intolerance: vomiting and diarrhea afte ia drinking milk Growth failure Liver enlargement Neurologic abnormalities  Dietary mgt: Lactose-free formula Galactosemi a  Failure to metabolize galactose into glucose because of the absence of galactose-1-phosphate uridyl transferase Galacto-sem Symptoms: Lactose intolerance: vomiting and diarrhea after ia drinking milk Growth failure Liver enlargement Neurologic abnormalities  Maple syrup urine disease Homocystinuria Some Tyrosinosis Metabolic/ Urea cycle disorders Inherited Ornithine transcarbamoylase deficiency problems Citrulinemia  Congenital hypothyroidism Other Congenital adrenal hyperplasia inherited/co Down’s syndrome ngenital Fetal alcoholic syndrome problems Prader-Wili syndrome Short bowel syndrome Ganito ba ang smile? Konti lang!  MNT for Metabolic Disorders Summary MNT for Nutritional Anemias MNT for Diseases in Nervous System