|
|
Doença de Depósito de Glicogênio Tipo II
|
Definição:
An autosomal recessively inherited glycogen storage disease caused by deficiency. Large amounts of accumulate in the of skeletal muscle (); ; ; ; and . Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
Sinônimos:
Deficiência de Maltase Ácida /
Doença da Deficiência de Maltase Ácida /
Doença da Deficiência de alfa-1,4-Glucosidase Lisossômica /
Doença de Pompe /
|
|
|
|
|
|
|
DOENÇAS
Doenças Nutricionais e Metabólicas