Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
Clin Chim Acta
; 87(3): 441-9, 1978 Aug 01.
Article
en En
| MEDLINE
| ID: mdl-28187
ABSTRACT
A patient with methylmalonic and beta-hydroxy-n-valeric aciduria, apparently due to deficiency of methylmalonyl-CoA mutase, is described. The excretion of beta-hydroxy-n-valerate did not parallel that of beta-hydroxypropionate and methylmalonate but was observed, together with beta-keto-n-valerate, only during ketosis. beta-Hydroxy-n-valerate excretion thus correlates primarily not with the pool size of propionyl-CoA but with that of acetyl-CoA, and may occur during ketosis in any disorder causing accumulation of propionyl-CoA.
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Banco de datos:
MEDLINE
Asunto principal:
Ácidos Pentanoicos
/
Valeratos
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Enfermedades del Recién Nacido
/
Isomerasas
/
Malonatos
/
Ácido Metilmalónico
/
Metilmalonil-CoA Mutasa
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Año:
1978
Tipo del documento:
Article