Acid Maltase Deficiency

Synonyms: Type II glycogenosis, Pompe disease (denotes infantile form of acid maltase deficiency)

Infantile acid maltase deficiency was first described in 1932 by Pompe and Pultschar. Acid maltase is a lysosomal enzyme, and the deficiency is a type II glycogenosis. The eponym "Pompe disease" should be restricted to the description of the infantile form of the disease.

Three forms: infantile, childhood, and adult-onset disease.

Infantile acid maltase deficiency (Pompe disease)

Childhood acid maltase deficiency

Adult acid maltase deficiency

An increased occurrence of cleft lip has been noted with acid maltase deficiency.

EMG is helpful with the occurrence of fibrillation potentials, positive waves, and myotonic discharges.

MRI of muscle to follow the progression of weakness and monitor response to therapeutic trials.

Entry date: June 5, 2005.