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