Type Ib glycogenosis.
Indian J Pediatr
;
1997 Jul-Aug; 64(4): 557-60
Artículo
en Inglés
| IMSEAR
| ID: sea-79188
ABSTRACT
Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Humanos
/
Masculino
/
Enfermedad del Almacenamiento de Glucógeno Tipo I
/
Hepatomegalia
/
Hipoglucemia
/
Lactante
/
Neutropenia
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
1997
Tipo del documento:
Artículo
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