Plasma amino acid analyses in two cases of maple syrup urine disease.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 138-9
Article
in English
| IMSEAR
| ID: sea-32738
ABSTRACT
Maple syrup urine disease is a rare inborn error of metabolism, characterized by elevated plasma levels of branched chain amino acids and urinary excretion of branched chain keto acids. Plasma amino acid levels in two subjects were followed by deproteinizing plasma, derivatizing the free amino acids with phenylisothiocyanate, and analysis by HPLC. The results indicate that valine, leucine and isoleucine are elevated in Maple syrup urine disease, and that leucine remains high even after dietary treatment.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Valine
/
Humans
/
Male
/
Infant, Newborn
/
Amino Acids
/
Infant
/
Isoleucine
/
Leucine
/
Maple Syrup Urine Disease
Language:
English
Journal:
Southeast Asian J Trop Med Public Health
Year:
1999
Type:
Article
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