Gangliosidosis 1 in brother and sister: case report
New Egyptian Journal of Medicine [The]. 2010; 42 (6): 522-524
em Inglês
| IMEMR
| ID: emr-125177
ABSTRACT
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside. Deficiency of the lysosomal hydrolase, acid beta-galactosidase, causes GM1 gangliosidosis and Morquio disease type B. 1, 2 Three clinical subtypes of GM1 gangliosidosis are recognized, classified by age of onset, [Infantile [type 1], juvenile [type 2] and adult [type 3][3, 4, 5]. We describe here 2 sibs brother and sister with features suggestive of GM 1 and confirm the diagnosis with enzymatic assay for beta galactosidase enzyme
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Gangliosidose GM1
/
Beta-Galactosidase
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
New Egypt. J. Med.
Ano de publicação:
2010
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