MN Week 2 - High Yield
- University of Oklahoma
- College Of Medicine (com)
- College Of Medicine (com) Indt 8148 Metabolism & Nutrition
- MN Week 2 - High Yield
Last Modified: 2012-04-17
Pyrimidine - ring is made up to orotate and then added to PRPP
buildup of dATP which inhibits ribonucleotide reductase(DNA synthesis)
Increase renal excretion
Deficiency in absorption of basic(cyst, orn, arg, lys) AAs in kidney and intestine
Get kidney stones from cysteine, ground glasss appearance
defect in absorping neutral(trypt) in kidney and intestine
Pellagra like skin rash and neuro symptoms
Nicotinic acid supplementation
Plasma ammonia and precursor AAs high
Orotic acid in urine high(increased precursor spilling into cytosol for CPS II to make into orotate for pyrimidine pathway)
mental retardation, hypopigmenation (precursor to tyrosine)
Maternal PKU can cause it too
deficiency of branched chain alpha keto dehydrogenase complex
Mental retardation, lethargy, coma
Increase in branched chain AAs(leucine, iso) in urine (maple syrup)
Restrict diet, leads to secondary hyperammonemia because they inhibit N-actetylglutamate synthetase
Osteoporosis, retardation, lens dislocation, MI in 20's
Restrict Methionine and in some cases megadoses of B6 or B12 to send it in either direction
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