Organic acid metabolism in a patient with ornithine transcarbamylase deficiency.
Serum and urinary organic acids in a 9-year-old girl with ornithine transcarbamylase deficiency were investigated. The urinary excretion of alpha-ketoglutarate (alpha-KG) and citrate were abnormally high. An inverse linear correlation was found between the plasma ammonium and alpha-KG levels when the plasma ammonium level was less than 200 micrograms/dl, but not at higher levels, suggesting that on overloading with ammonium, its route of metabolism and compensating mechanism are not functionally normal. After administration of NH4Cl, plasma and urinary levels of alpha-KG, pyruvate and citrate increased, but the urinary succinate level decreased slightly. After oral administration of citrate the plasma alpha-KG level increased and the ammonium level decreased transiently. Our results suggest that administration of citrate or alpha-KG is not effective for reducing hyperammonemia in ornithine transcarbamylase deficiency.
D000641:Ammonia / Q000097:blood*; D000643:Ammonium Chloride; D002648:Child; D002951:Citrates / Q000378:metabolism*; D019343:Citric Acid; D005260:Female; D005973:Glutamine / Q000097:blood; D006801:Humans; D007656:Ketoglutaric Acids / Q000378:metabolism*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011773:Pyruvates / Q000378:metabolism; D019289:Pyruvic Acid; D013386:Succinates / Q000378:metabolism; D019802:Succinic Acid
D002951:Citrates; D007656:Ketoglutaric Acids; D011773:Pyruvates; D013386:Succinates; D000643:Ammonium Chloride; D005973:Glutamine; D019343:Citric Acid; D000641:Ammonia; D019289:Pyruvic Acid; D019802:Succinic Acid