Metabolic Disorders Flashcards
Alkaptonuria
Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in Protein
Result form deficiency of homogentisate oxidase
Homocystinuria
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine.
Hartnup Disease
Hartnup disease (also known as “pellagra-like dermatosis” and “Hartnup disorder”) is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin)
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain Alpha-Keto Acid Dehydrogenase activity
The condition gets its name from the distinctive sweet odor of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness.
Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin.
Types: Classic, variant
Causes: Genetic (autosomal recessive)
Treatment: Diet low in foods that contain phenylalanine, special supplements
Medication: Sapropterin dihydrochloride
Cause of MSUD (stands for)
- Maple syrup urine disease (MSUD)
- results from an inborn metabolic error caused by a deficiency of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC). cDNA clones
Cori Disease
Debranching Enzyme deficiency
Pompe Disease
Liver Phosporylase deficiency
Andersen’s Disease
Branching enzyme deficiency
Von Gierke’s Disease
Glucose-6-phosphate deficiency
Apoprotein A-I gene
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Apoprotein B-100/B-48 gene
Mutation of this gene lead to impaired ability to produce chylomicrons, VLDL & LDL, thereby leading to fat malabsorption, diarrhea, cerebellar ataxia
Apoprotein C-II gene
Mutation involving this gene can result in an inability to activate lipoprotein lipase and lead to a clinical disorder that closely resembles lipoprotein lipase deficiency.
Apoprotein E gene
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LDL receptor gene
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Metabolic Function: Anaerobic glycolysis
Skeletal Muscle
Gluconeogenesis
Erythrocyte
Hormone-controlled lipolysis
Kidneys
Oxidation of Keton bodies
Brain
Point of entrance to the TCA cycle: Glutamate
Enters the TCA cycle at the level of Alpha-ketoglutarate
Point of entrance to the TCA cycle: Tyrosine
Enters the TCA cycle at the level of Fumarate
Point of entrance to the TCA cycle: Aspartate
Enters the TCA cycle at the level of Fumarate
Point of entrance to the TCA cycle: Proline
Enters the TCA Cycle at the level of Alpha-Ketoglutarate
Point of entrance to the TCA cycle: Isoleucine
Enters the TCA cycle at the level of Succinyl-CoA
Adrenal Pheochromocytoma
Pheochromocytoma (PCC) is a neuroendocrine tumor of the medulla of the adrenal glands (originating in the chromaffin cells), or extra-adrenal chromaffin tissue that failed to involute after birth, that secretes high amounts of catecholamines, mostly norepinephrine, plus epinephrine to a lesser extent.
Based on the urinary excretion of (VMA) Vanillylmandelic acid derived form epinephrine
Catecholamines Definition & 3 Examples
- any of a group of chemically related neurotransmitters, as epinephrine and dopamine, that have similar effects on the sympathetic nervous system.
- Among the catecholamines are dopamine, epinephrine (adrenaline), and norepinephrine (noradrenaline). All catecholamines are synthesized from the amino acid l-tyrosine according to the following sequence: tyrosine → dopa (dihydroxyphenylalanine) → dopamine → norepinephrine (noradrenaline) → epinephrine (adrenaline).
Vanillylmandelic Acid (VMA)
Vanillylmandelic acid is a chemical intermediate in the synthesis of artificial vanilla flavorings and is an end-stage metabolite of the catecholamines, epinephrine, and norepinephrine. It is produced via intermediary metabolites.
Niemann-Pick Disease
Niemann–Pick diseases are a subgroup of lipid storage disorders called sphingolipidoses in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, , bone marrow, and brain.
In the classic infantile type-A variant, a missense mutation causes complete deficiency of sphingomyelinase.
Due to a deficiency a deficiency of the enzyme that hydrolitically removes phosphorylcholine from sphingomyelin
Define Phosphorylcholine
Phosphorylcholine is a small haptenic molecule, is found in a wide variety of organisms. Human hepatic tumors undergo an elevation in the concentration of phosphorylcholine as the principal metabolic change is observed.
Phosphorylcholine is the precursor metabolite of choline in the glycine, serine and threonine metabolism pathways and in intermediate between choline and cytidine-diphosphate choline in the glycerophospholipid metabolism pathway
Sphinolipidoses
Lipid storage disorders in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, bone marrow, and brain.
Sphingolipidoses are an heterogeneous group of inherited disorders of lipid metabolism affecting primarily the central nervous system.
Allopurinol drug
Allopurinol is a xanthine oxidase (XO) inhibitor that prevents the conversion of hypoxanthine and xanthine to uric acid
a synthetic drug which inhibits uric acid formation, used to treat gout and related conditions.
C3H4N4O used to promote excretion of uric acid especially in the treatment of gout.
Define Methylmalonic Acidemia
Cobalamin=Vitamin B12 Deficiency
- Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats.
- The result is a buildup of a substance called methylmalonic acid in the blood.
- This condition is passed down through families.
- It is one of several conditions called an “inborn error of metabolism
Pellagra
-Pellagra is a disease caused by a lack of the vitamin niacin (vitamin B3)
-Symptoms include inflamed skin, diarrhea, dementia, and sores in the mouth
-Areas of the skin exposed to either sunlight or friction are typically affected first.
Causes: Not enough niacin
Symptoms: Inflammation of the skin, diarrhea, dementia, sores in the mouth
Prevention: Addressing poverty
Treatment: Niacin or nicotinamide supplementation & provide a dietary high content of TRYPTOPHAN
