GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
Indian J Pediatr
;
1995 Jul-Aug; 62(4): 479-83
Artículo
en Inglés
| IMSEAR
| ID: sea-79750
ABSTRACT
The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve cells. The majority of the patients are infants with the Tay-Sachs form of the disease associated with a severe deficiency of beta-N-Acetylhexosaminidase A (hexosaminidase A). Both Hexosaminidase A and B are deficient in Sandhoff disease. The serum total hexosaminidase and the percentage of hexosaminidase A and B were estimated in 449 patients who presented with progressive mental-motor retardation. Three cases of Tay-Sachs disease and two cases of Sandhoff disease were detected. They presented with exaggerated startle response to acoustic stimuli, seizures, optic atrophy and retinal cherry red spots in addition to psychomotor retardation. One case of Sandhoff disease had hepatosplenomegaly and skeletal deformities.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Pronóstico
/
Enfermedad de Sandhoff
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Enfermedad de Tay-Sachs
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Beta-N-Acetilhexosaminidasas
/
Femenino
/
Humanos
/
Masculino
/
Preescolar
/
Sensibilidad y Especificidad
/
Medición de Riesgo
Tipo de estudio:
Ensayo Clínico Controlado
/
Estudio diagnóstico
/
Estudio de etiología
/
Estudio pronóstico
/
Factores de riesgo
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
1995
Tipo del documento:
Artículo
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