title: Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant.
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.
authors.affiliation: Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
authors.forename: C
authors.initials: C
authors.lastname: Srisomsap'
authors.forename: P
authors.initials: P
authors.lastname: Wasant
authors.forename: J
authors.initials: J
authors.lastname: Svasti
authors.forename: D
authors.initials: D
authors.lastname: Chokchaichamnankit
authors.forename: S
authors.initials: S
authors.lastname: Liammongkolkul
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism*; D000596:Amino Acids / Q000097:blood*; D002264:Carboxylic Acids / Q000652:urine*; D005260:Female; D006801:Humans; D007223:Infant; D008764:Methylmalonic Acid / Q000097:blood*
chemical_list: D000596:Amino Acids; D002264:Carboxylic Acids; D008764:Methylmalonic Acid