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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 |