Clinical and biochemical studies in homocystinuria.
Indian Pediatr
;
1995 Oct; 32(10): 1067-75
Article
Dans Anglais
| IMSEAR
| ID: sea-10083
ABSTRACT
Homocystinuria was diagnosed in 15 (0.59%) cases on screening 2560 children for aminoacidopathies. The commonest presenting features were ectopia lentis (95%) and mental retardation (86%). Other features included, dental anomalies (40%), osteoporosis (40%), behavioral problems (33%) and arachnodactyly (13%). Diagnosis was confirmed by iodoplatinate staining of one dimensional paper chromatography of urine. All the 15 cases of homocystinuria were first treated with high dose oral pyridoxine. Only one case responded to pyridoxine therapy. All the other patients were started on a low methionine, High cysteine diet with folate supplementation. Only one patient showed a complete response to dietary therapy. Nonavailability and high cost of the commercially available methionine-free, cysteine-supplemented diet and late diagnosis were responsible for the poor response in the majority of our patients.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Pronostic
/
Pyridoxine
/
Femelle
/
Humains
/
Mâle
/
Enfant
/
Enfant d'âge préscolaire
/
Ectopie du cristallin
/
Dépistage de masse
/
Incidence
Type d'étude:
Etude d'incidence
/
Étude pronostique
/
Étude de dépistage
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
1995
Type:
Article
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