Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant.
作者信息
Srisomsap' C, Wasant P, Svasti J, Chokchaichamnankit D, Liammongkolkul S
机构信息
Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
出版信息
Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:140-2.
PMID:11400752
Abstract
Methylmalonic acidemia is an inborn error of organic acid metabolism resulting from defects in methylmalonyl CoA mutase. Analysis of plasma free amino acids in a 15-month-old Thai infant by HPLC showed marked elevation of glycine. HPLC analysis of urinary organic acids showed high levels of methylmalonic acid.
摘要
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