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DIT proteins/fats
Question | Answer |
---|---|
lactulose | sugary syrup broken down in gut to create an acidic env which creates NH4 and traps it and other ammonium for gut ion excression |
histamine precursor | histidine |
porphyrin, heme precursor | glycine |
NO precursor | arginine |
GABA precursor | glutamate |
SAM precursor | methionine |
creatine precursor | arginine |
RLE for urea cycle | CPS I |
RLE for hexose monophosphate pathway | G6PD |
RLE for fatty acid synthesis | Acetyl CoA carboxylase |
RLE for beta oxidation of fatty acids | CAT1 |
ketone body synthesis | HMG CoA synthase |
cholesterol synthesis | HMG CoA reductiase |
bile acid synthesis | 7 alpha hydroxylase |
Heme synthesis | aminolevulinate synthase |
What deficiency causes familial hypercholesterolemia | LDL receptors |
dietary modifications in a pt with PKU | low phenylalanine, increased tyrosine, replace THF |
full term neonate becomes MR and hyperactive and has a musty odor | PKU |
2 yo girl has increased abd girth, FTT and skin/hair depigmentation | kwashiorkor |
a mddle aged man has dark spots on his sclera and his urine turns black upon sitting | alkaptonuria |
genetic disease where tx includes protein restrictino to prevent MR, ketoacidosis and death | maple syrup urine disease |
18yo female has moderate generalized abd pain, normal WBC and no fever. she has paresthesias i her lower extremities. | acute intermittant porphyria |
45 yo male alcoholic with blistering lesions in sun exposed areas especially the dorsum of the hands. he has face hypertrichosis | porphyria cutanea tarda |
tx for homocystinuria | decreased methionine, increased cystine, increased B6, B12, and folate |