L-carnitine therapy in isovaleric acidemia.
J Clin Invest
; 74(6): 2290-5, 1984 Dec.
Article
em En
| MEDLINE
| ID: mdl-6549017
ABSTRACT
Isovaleric acidemia, resulting from isovaleryl-coenzyme A dehydrogenase deficiency, is associated with marked reduction of free carnitine in both plasma and urine. Fast atom bombardment-mass spectrometry, hydrolysis, and gas chromatography/mass spectrometry have unequivocally identified the existence of isovalerylcarnitine, a new metabolite specific for this disorder. Administration of equimolar amounts of glycine or L-carnitine separately with leucine demonstrated that isovaleryl-coenzyme A is removed by supplemental L-carnitine in the form of isovalerylcarnitine as effectively as it is by glycine, in the form of isovalerylglycine. When L-carnitine is given alone, excretion of isovalerylglycine decreases in preference to enhanced excretion of isovalerylcarnitine and hippurate. Treatment with L-carnitine alone has proven effective in preventing further hospitalizations in a patient with this genetic disorder.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Oxirredutases
/
Ácidos Pentanoicos
/
Valeratos
/
Carnitina
/
Oxirredutases atuantes sobre Doadores de Grupo CH-CH
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Invest
Ano de publicação:
1984
Tipo de documento:
Article