Pompe disease, also referred to as glycogen storage disease type II and acid maltase deficiency, is a genetic muscle disorder caused by a deficiency of acid a-glucosidase (GAA, also referred to as acid maltase). This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle cells (Fig 1) the most seriously affected. Cl...

The enzyme maltase (glucoinvertase; glucosidosucrase; maltase-glucoamylase; a-glucopyranosidase; glucosidoinvertase; a-D-glucosidase; a-glucoside hydrolase; a-1,4-glucosidase EC 3.2.1.20), is involved in the exo-hydrolysis of 1,4-a-glucosidic linkages and certain oligosaccharides into glucose which is an important energy source for soil microbes. This enzyme originates from different sources, w...

Folate binding activity of high affinity was identified in the particulate fractions of rat kidney homogenates. This binding activity cofractionated with alkaline phosphatase and maltase, two brush border membranes markers. With an enriched preparation of brush border membranes, freed of endogenous folate by acid treatment, the binding of [3H]olate was found to be saturable (Kb = 4.2 X 10(-11)M...

Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affe...

Digestion of starch in mammals occurs chiefly in the mouth and small intestine through the catalytic activity of ar-amylase and maltase (a-glucosidase). Extensive cw-amylolysis of amylose and amylopectin results in the formation of maltose, glucose, and a mixture of branched oligosaccharides (cr-amylase dextrins) (1). The latter compounds, whose structure is currently being investigated by seve...

INTRODUCTION To the best of our knowledge, we describe for the first time a patient in whom an unusual metabolic myopathy was identified after failure to respond to curative therapy for a systemic vasculitis, polyarteritis nodosa. We hope this report will heighten awareness of common metabolic myopathies that may present later in life. It also speculates on the potential relationship between me...

Three varieties of Hibiscus sabdariffa were analyzed for their phytochemical content and inhibitory potential on carbohydrate-digesting enzymes as a basis for selecting a variety for wine production. The dark red variety was chosen as it was highest in phenolic content and an aqueous extract partially inhibited α-glucosidase (maltase), with delphinidin 3-O-sambubioside, cyanidin 3-O-sambubiosid...

Pompe disease (PD; acid maltase defi ciency or glycogen storage disease type II) is an autosomal recessive inherited, potentially treatable metabolic myopathy with heterogeneous clinical presentations and with considerable overlap of signs and symptoms found in other neuromuscular disorders. According to previous reports, patients with PD have been incorrectly diagnosed for several years as lim...

Mutations resulting in constitutive production of maltase have been identified at each of the five MAL loci of Saccharomyces yeasts. Here we examine a dominant constitutive, glucose-repression-insensitive allele of the MAL4 locus (MAL4-C). Our results demonstrate that MAL4-C is an alteration in the MAL43 gene, which encodes the positive regulator of the MAL structural genes, and that its produc...

MALTOSE is the only disaccharide which, on subcutaneous injection, has been found capable of alleviating the symptoms caused by insulin. As has been shown by Herring, Irvine and Macleod [1924], its action, in this respect, in the case of mice is almost as efficient as that of glucose or mannose, but with larger animals, such as rabbits, cats or dogs, it is less effective. Even with mice, it exe...