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
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Valina
/
Humanos
/
Masculino
/
Recién Nacido
/
Aminoácidos
/
Lactante
/
Isoleucina
/
Leucina
/
Enfermedad de la Orina de Jarabe de Arce
Idioma:
Inglés
Revista:
Southeast Asian J Trop Med Public Health
Año:
1999
Tipo del documento:
Artículo
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