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Common Diseases of Amino Acid Metabolism

Common Diseases of Amino Acid Metabolism

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Published by: abstabs on Dec 13, 2009
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05/18/2012

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Common Diseases Of Amino Acid Metabolism
From rita abigail b. tabares
 
Glycinuria
X-linked (possibly dominant)
Defect: renal tubular transport of glycine
Formation of oxalate renal stones
 
Primary Hyperoxaluria
Continuous urinary excretion of oxalate and calcium oxalatedeposits (kidneys and urinary tract)
Renal failure – death
Defect:
 –
≠ convert glyoxylic acid into formate
 –
Or to glycine 2° to deficiency of glyoxylic acid oxidizing enz and/orglycine transaminase

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