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35 Cards in this Set

  • Front
  • Back
Lactase Deficiency
Infants, severe diarrhea, sucrose formula
Pyruvate Kinase Deficiency
Hemolytic Anemia, Increased 2,3-BPG, No
Heinz Bodies
| Deficiency in galactokinase or uridyl transferase(**),
galactosuria and cataracts, Dx at birth
Essential Fructosuria
fructokinase deficiency, benign, fructosuria
Hereditary fructose intolerance
aldolase B deficiency, liver damage,
severe hypoglycemia, depletes live of Phosphate needed for
gluconeogenesis, No cataracts, Dx after solids added to diet
G6P dehydrogenase deficiency
Heinz Bodies (cross linked, denatured
Hb), Hemolytic Anemia, No change in 2,3-BPG
Wernicke-Korsakoff syndrome
psychosis, mental wasting, ataxia;
mutatation in transketolase gene, reduced affinity for TPP, thiamine therapy
nutritional deficiency of thiamine, W-K like symptops,
alcoholics prone; transketolase, PDH, alpha-KG dehydr, 1 other, won't
work. excess Glc -> Lactic acidosis
Riboflavin/B2 deficiency
anemia, oily dermatitis, sore lips, seen in
pregnancy and children, B2 degraded by light
Niacin/Nicotinic Acid deficiency
| Pellegra - dementia, diarrhea,
dermatitis, death
Pyridoxine/B6 deficiency
Microcytic anemia, hypochromic RBC
Biotin deficiency
Alopecia (hair loss) - very rare
Folic acid Deficiency
Megaloblastic anemia, NTD in fetus, alcoholics
often Folate deficient
Cobalamin/B12 Deficiency
Megaloblastic anemia, pernicious anemia
(genetic defect in intrinsic factor)
Ascorbic acid/C deficiency
anemia, decreased wound healing, increased
coagulation times, scurvy, sometimes seen with artificial formula use in
Ascorbic acid/C Megadose
kidney stones
von Gierke's disease
G-6-Phosphatase deficiency, severe postabsorptive
hypoglycemia, lactic acidemia, hyperlipidemia, hepatomegaly
Pompe's disease
lysosomal alpha-glucosidase deficiency, glycogen
granules in lysosomes, cardiomegaly
Cori's disease
debranching enzyme deficiency, altered glycogen
structure, hypoglycemia
Anderson's disease
branching enzyme deficiency, altered glycogen structure
McArdle's disease
muscle phosphorylase deficiency, excess muscle
glycogen deposition, cramps & fatigue after exercise
Hers' disease
phosphorylase deficiency, hypoglycemia, hepatomegaly
inhibits NADH->CoQ
inhibts NADH->CoQ
inhibits Cyto B -> Cyto C1 in complex III
CN-, azide, CO
inhibits Cyto aa3 -> O2
blocks entry of H+ into F0 site, pH drops, e- flow stops
shuttles H+ into matrix, bypassing Complex V. Destroys H+
motive force, ATP won't be synthesized. if given as anti-obesity agent,
hyperthermia results
uncoupler/ionophore, brings K+ into matrix, destroys
electrical gradient, pH gradient unchanged, no ATP
uncoupler/ionophore for K+, exchanges K+ for H+ inside
matrix, destroys pH grad, electrical grad unchanged, no ATP
lipid in stool; exclusion of bile? -> TG in stool.
Exclusion of pancreatic juice? ->TG in stool. Malabsorption? ->FA in
stool. ->deficiency of essential FA & vitamins
Myopathic carnitine deficiency
reduced muscle carnitine or defect in
CAT enzyme in muscle. elevated muscle TG, exercise induced weakness.
differentiate from McArdles w/ muscle biopsy
Medium chain acyl CoA dehydrogenase (MCAD) deficiency
hypoglycemia (AcCoA needed for gluconeogenesis), hypoketonemia,
dicarboxylic acidemia (omega-ox pathway activated)
Methyl malonic acidemia
B12 deficiency, intrinsic factor defect,
Methylmalonyl CoA mutase defect, or B12 coenzyme defect
Ketonemia (High KB in blood) -> keto acidosis, Ketonuria ->
dehydration, acetone breath