Galactosemia with chorea--an unusual presentation.
Indian J Pediatr
;
2009 Jan; 76(1): 97-8
Article
Dans Anglais
| IMSEAR
| ID: sea-81225
ABSTRACT
Galactosemia, an inborn neurometabolic disorder, results from an aberrant galactose metabolism due to the deficiency of serum galactose-1-phosphate uridyltransferase activity. It manifests in the central nervous system in the form of hypotonia, seizures, mental retardation, tremor, ataxia, and progressive cerebellar as well as extrapyramidal features. To the best of our knowledge, chorea due to galactosemia has not been reported in infancy.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Femelle
/
Humains
/
Enfant d'âge préscolaire
/
Chorée
/
Consanguinité
/
Galactosémies
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2009
Type:
Article
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