Ahomocysteinemia in molybdenum cofactor deficiency.
Neurology
; 51(3): 860-2, 1998 Sep.
Article
en En
| MEDLINE
| ID: mdl-9748040
ABSTRACT
We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, and bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations of plasma cystine, high levels of urinary S-sulfocysteine and sulfite, and high levels of oxypurines in serum and urine. The depletion of cysteine and cystine through reaction with sulfite suggests that other thiols and thiol-dependent proteins may be similarly depleted. Ahomocysteinemia may be a clue to the mechanism of cytotoxicity in MCD.
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Banco de datos:
MEDLINE
Asunto principal:
Pteridinas
/
Encéfalo
/
Encefalopatías
/
Coenzimas
/
Homocisteína
/
Enfermedades Metabólicas
/
Metaloproteínas
Límite:
Humans
/
Infant
Idioma:
En
Año:
1998
Tipo del documento:
Article