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29 Cards in this Set
- Front
- Back
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Phenylketonuria
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decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor
phenylketones in urine, tyrosine essential symptoms: mousy, musty odor, MR, seizure, fair skin |
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Alkaptonuria (ochronosis)
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deficient homogenistic acid oxidase in tyrosine degradation
symptoms: benign, dark connective tissue, urine turns black on standing |
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Albinism
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deficiency of tyrosinase or tyrosine transporter deficiency, or lack of neural crest migration
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Homocystinuria
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cystathione synthase deficiency or decreased affinity for B6 or decreased homocysteine methyltransferase
cysteine becomes essential symptoms: MR, tall stature, lens subluxation, atherosclerosis (thromboses, stroke, MI) |
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Cystinuria
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defect of renal tubular amino acid transporter for C, K, R, ornithine in PCT --> cystine kidney stones
treat with acetazolamide to alkalinize urine |
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Maple syrup urine disease
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blocked branched degradation from low alpha-ketoacid dehydrogenase
increased Leucine, Isoleucine, Valine symptoms: CNS defects, MR, death |
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Hartnup disease
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defective neutral amino acid transporter in kidneys/gut
tryptophan excretion, leads to pellagra |
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Von Gierke's disease
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glucose-6-phosphatase deficiency
symptoms: severe fasting hypoglycemia, heavy glycogen liver, increased blood lactate, hepatomegaly with hepatic steatosis |
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Pompe's disease
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lysosomal alpha-1,4-glucosidase (acid maltase) deficiency
symptoms: cardiomegaly, early death |
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Cori's disease
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debranching (alpha-1,6-glucosidase) deficiency
symptoms: fasting hypoglycemia, hepatomegaly |
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McArdle's disease
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glycogen phosphorylase deficiency in skeletal muscle
symptoms: can't break glycogen in muscle leading to cramps, myoglobinuria |
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carnitine deficiency
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toxic LCFA accumulation, weakness, hypotonia, hypoketotic hypoglycemia
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Acyl-CoA dehydrogenase deficiency
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increased dicarboxylic acids, decreased glucose/ketones; vomiting, lethargy, seizures after fasting
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type I - hyperchylomicronemia
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increased chylomicrons, elevated blood TG, cholesterol
lipoprotein lipase deficiency or altered CII symptoms: pancreatitis, hepatosplenomegaly, xanthomas |
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type II - familial hypercholesterolemia
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increased LDL, elevated blood cholesterol
autoD, absent LDL receptors symptoms: atherosclerosis, achilles xanthomas, corneal arcus |
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type IV - hypertriglyceridemia
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increased VLDL, high blood TG
hepatic overproduction of VLDL symptoms: pancreatitis |
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Abeta-lipoproteinemia
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deficient apoB-100, apoB-48
autoR in first months of life, chylomicrons accumulate on enterocytes symptoms: FTT, steatorrhea, acanthocytosis, ataxia, night blindness |
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type III - dysbetalipoproteinemia
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increased VLDL and chylomicrons
decreased ApoE4/E3, impaired chylomicron uptake |
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Pyruvate dehydrogenase deficiency
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lactic acidosis (increased pyruvate and alanine)
symptoms: neurological defects tx: ketogenic aa's - lysine/leucine |
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chronic granulomatous disease
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NADPH oxidase deficiency, messed up respiratory burst, diagnose with nitroblue tetrazolium
infection risk of catalase-positive species |
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myeloperoxidase deficiency
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autoR, no respiratory burst
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G6PD deficiency
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XR, decreased NADPH, hemolytic anemia after oxidizing agents/infection
heinz bodies (Hb precipitate) and bite cells (phagocyte removal) |
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fructose intolerance
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aldolase B deficiency, autoR
decreased phosphate means inhibition of glycolgenolysis/gluconeogenesis hypoglycemia, jaundice, cirrhosis, vomiting tx: decreased fructose/sucrose |
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essential fructosuria
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defective fructokinase, autoR
benign, fructose in blood/urine |
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classic galactosemia
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deficient galactose-1-phosphate uridyltransferase, autoR
FTT, jaundice, hepatomegaly, cataracts, MR tx: exclude galactose/lactose |
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galactokinase deficiency
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autoR, mild, galactitol accumulation
galactose in blood/urine, infantile cataracts |
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lactase deficiency
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deficient galactosyl beta 1,4 glucose
loss of brush-border enzyme, may follow gastroenteritis increased stool osmotic gap, decreased stool pH, increased breath hydrogen |
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hyperammonemia
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acquired or enzyme deficiency
excess NH4+ depletes alpha-ketoglutarate, inhibits TCA termor, slurring, somnolence, vomiting, cerebral edema, blurred vison tx: limit protein in diet, benzoate/phenylbutyrate (bind aa and excrete) |
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OTC deficiency
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ornithine transcarbamoylase deficiency, XR
increased carbamoyl phosphate goes to orotic acid, decreased BUN, hyperammonemia symptoms tx: protein restriction |
