Hydroxyproline metabolism in two sisters with hydroxyprolinemia.
Hydroxyproline metabolism was evaluated in two sisters with hydroxyprolinemia and their mother. 33 and 21% of an oral hydroxyproline load (200 mg/kg) was excreted by the sisters, 5.4% by the mother, and 1.3% by normal subjects. Plasma and erythrocyte values in the sisters and their mother were elevated, indicating that extra- and intracellular hydroxyproline pools were increased. Analysis for urinary glycolate and oxalate (metabolic products of hydroxyproline) showed no increased excretion by the two sisters, although the mother's excretion was normal. A deficiency of hydroxyproline oxidase in the two sisters was indicated by the lack of delta 1-pyrroline-3-hydroxy-5-carboxylic acid excretion.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006016:Glycolates / Q000652:urine; D006801:Humans; D006909:Hydroxyproline / Q000378:metabolism*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010070:Oxalates / Q000652:urine; D010088:Oxidoreductases / Q000172:deficiency
D006016:Glycolates; D010070:Oxalates; D010088:Oxidoreductases; D006909:Hydroxyproline