Treatment of the genetic metabolic myopathies remains generally unsatisfactory with the exception of a select few. Multiple Acyl Co-A Dehydrogenase Deficiency (Glutaric Aciduria type II), in particular, has been shown to respond well to riboflavin supplementation. Recently, studies have also confirmed the effectiveness of recombinant enzyme replacement therapy for Acid Maltase Deficiency (Pompe...

Glycogen storage disease type II - also called Pompe disease or acid maltase deficiency - is an autosomal recessive metabolic disorder, caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), lo...

Nine patients with adult onset acid maltase deficiency were seen at the Nijmegen University Hospital and the St Elisabeth Hospital, Tilburg , during the period 1970-1982. Five of these patients developed respiratory failure, and in four this was the initial symptom. The occurrence of respiratory failure as an early symptom of this muscular disease is discussed.

The onset of the adult form of Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a slow progressive muscular disorder in which little correlation exists between respiratory function and locomotor function [1]. The greater degree of respiratory dysfunction, compared with mobility loss, is mainly ascribable to the predominant and progressive involvement ...

Introduction Pompe disease (glycogenosis II, acid maltase deficiency, OMIM 232300) is a treatable autosomal recessive disorder of glycogen metabolism caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. A hallmark of Pompe disease is the presence of glycogen-loaded lysosomes. Pompe disease has frequently been misdiagnosed as other myopathies, such as polymyositis, and mistakenly...

Introduction Glycogen storage disease type II (Pompe disease or acid maltase deficiency) is an autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. Accumulation of glycogen in the lysosomes damages muscle cells throughout the body. In response to that damage, we hypothesized that cytokines (a family of proteins that mediate innate and ada...

Lysosomal glycogen storage disease without acid maltase deficiency is characterized by the triad of clinical manifestations (hypertrophic cardiomyopathy), mental retardation, and mild myopathy), morphologic findings (glycogen storage, glycogenosomes, and autophagic vacuoles), and normal glycolytic enzyme activities. Though most of the patients suffering from the triad were males, family studies...

The 100000g supernatants from 13-day-old suckling-rat intestinal homogenates contained 43.5% of the total intestinal maltase activity, compared with 7.1% in weaned adult rats aged 40 days. The soluble maltase activity was separated on Sepharose 4B into two quantitatively equal fractions at pH6.0, one containing a maltase with a neutral pH optimum and the other a maltase with an acid pH optimum....