Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant.
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.
Srisomsap'
C
C
Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
Wasant
P
P
Svasti
J
J
Chokchaichamnankit
D
D
Liammongkolkul
S
S
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*
D000596:Amino Acids; D002264:Carboxylic Acids; D008764:Methylmalonic Acid