Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.2.1.20 (alpha-glucosidase)
 4,237 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One acid alpha-glucosidase and two neutral alpha-glucosidases were separated from human skeletal muscle by DEAE-cellulose column chromatography. The appearance of the two human neutral alpha-glucosidase isoenzymes was found to be age dependent. We called them "fetal" and "adult" neutral alpha-glucosidases. The biochemical properties of the fetal and adult types of neutral alpha-glucosidases appeared to be similar to those previously reported for neutral alpha-glucosidases AB and C, respectively. The neutral alpha-glucosidase activity in the column eluate of the infantile acid maltase deficiency (AMD; 5-month-old) muscle was completely of the adult type, whereas 18% of the total neutral alpha-glucosidase activity in age-matched control muscle was of the fetal type. In contrast, the eluate of the late-onset AMD (32-year-old) muscle contained both the adult and fetal neutral alpha-glucosidases, 68 and 32%, respectively.
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PMID:alpha-Glucosidase isoenzymes in normal and acid maltase-deficient human skeletal muscles. 313 93

Three children, including two siblings and a patient with sporadic glycogenosis type II (childhood form of acid maltase deficiency [AMD] ), were studied clinically, biochemically, and morphologically. In addition to a delay in developmental milestones and mild generalized muscle weakness, nasal vocalization and an electromyographic finding of abnormal insertion voltage, followed by pseudomyotonic discharge, were assumed to be characteristic diagnostic findings for the childhood form of AMD. Since the neutral maltase activity was highest in the muscle biopsy specimen from the patient with the least severe weakness, the enzyme may play a role in reducing muscle involvement. Selective type 2A fiber atrophy and type 2B fiber deficiency in the affected muscles were the common histochemical findings in this particular form of AMD.
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PMID:Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients. 636 Jan 3