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12 Cards in this Set

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pernicious anemia is caused by lack of _ which is essential for _
genetic lack of "intrinsic factor" a glycoprotein, essential for Cobalamin (B12) absorbtion
maple syrup urine is caused by defect in _ which leads to build up of
branched chain alpha keto acid decarboxylation complex - build up of toxic alpha keto acid derivatives of valine, isoleucine, and leucine
phenylketonuria is caused by lack of _ leading to build up of _ causing _
phenylalnine hydrogenase (converts Phe to Tyr), build up of Phe and Phenyl Pyruvate, mental retardation and light colored skin (because Tyr is needed to make melanin)
21 hydroxylase deficiency leads to _ and _ not being made, causing _ to not occur resulting in too much _ which becomes too much _. _ and _ are symptoms
glucocorticoids are not made, so feedback inhibition of production of ACTH by the anterior pituitary does not occur, resulting in too much progesterone which becomes too much androgens (sex hormones). Gentalia development and growth problems are symptoms.
causes and symptoms of hyperammonemia
liver damage (eg alcoholics) - too much free ammonia - alphketoglutarate combines with ammonia to form glutamate which is a NT - convulsions/coma, also less alphaketoglutarate means less energy - lethargy
tetrahydrobiopterin is a cofactor for
monooxygenase has a cofactor called
pyridoxal phosphate (PLP) is a cofactor for
aminotransferase (gluconeogenesis) and decarboxylase (AcCoA condensing w/Malonyl CoA in FA elongation AND Serine - Palmitoyl CoA condensation in Sphingosine synthesis) has a cofactor called
cobalamin is Vit B_ and a cofactor for
vit B12, methy malonyl mutase has a cofactor called _
biotin is a cofactor for _, and in one case, how is it regulated by phosphorylation?
propionic CoA carboxylase in gluconeogenesis and Acetyl CoA carboxylase that changes Acetyl CoA to Malonyl CoA in FA synthesis. ACC is inactivated when AMP dependent protein kinase phosphorylates it, so that FA synthesis doesnt occur when energy levels are low
CAT 1 deficiency is bad because_ and can be treated with _
FA's cannot be transported by Carnitine Acyl Transferase; treatment is to eat only short chain FA's
tay-sachs disease is due to deficiency in _, which converts _ to _
Hexosaminidase A which normally degrades ganglioside GM2 to ganglioside GM3; GM2 accumulates in neurons, neurons balloon and degenerate
hypercholesterolemia caused by lack of _, causing blood { _ } to increase but cells keep making cholesterol because _ levels are elevated, treat with _ ?
genetic lack of LDL receptors, blood LDL concentration rises but HMG CoA levels stay high - atheriosclerotic plaques
treat with Statins that inhibit HMG CoA reductase