Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy
Journal of Genetic Medicine
;
: 161-165, 2009.
Artículo
en Coreano
| WPRIM
| ID: wpr-15584
ABSTRACT
Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Insuficiencia Respiratoria
/
Cardiomiopatía Hipertrófica
/
Enfermedad del Almacenamiento de Glucógeno Tipo II
/
Cardiomegalia
/
Músculo Esquelético
/
Glucógeno
/
Hipotonía Muscular
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of Genetic Medicine
Año:
2009
Tipo del documento:
Artículo
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