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

Daytime breathing problems caused by neurologic lesions always worsen during sleep, and in certain cases abnormal breathing patterns are only seen during sleep or specific sleep states. The first clinical manifestation of maltase deficiency, myopathy, or myotonic dystrophy is often a sleep-related complaint, such as unexplained waking from sleep (insomnia) or daytime somnolence. Thus, systematic investigation during sleep of disorders impairing the loop involved in breathing is strongly encouraged. Lesions may involve sensory receptors, sensory pathways, brainstem-controlling neurons, upper motor neurons, descending motor pathways, lower motor neurons, motor nerves, neuromuscular junctions, or respiratory muscles. Most of these lesions lead to a decrease in or absence of inspiratory efforts (diaphragmatic apnea or hypopnea) during sleep. These events differ from the classic obstructive sleep apnea syndrome and the recently described upper airway resistance syndrome, which usually involve mild or significant anatomic abnormalities of the upper airway and craniofacial region. The treatment of abnormal breathing during sleep has been improved by the development of nasal ventilation methods: continuous positive airway pressure, intermittent positive pressure, and volume ventilation. These therapeutic approaches can prevent tracheostomy and diaphragmatic pacing and are more efficacious than drug treatments. Long-term compliance is generally much better in breathing disorders secondary to neurologic impairments than in cases of mild to moderate obstructive sleep apnea.
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PMID:Sleep-related obstructive and nonobstructive apneas and neurologic disorders. 163 Jun 39

Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea. Death usually results from respiratory failure. Effective specific treatment is not available. Enzyme replacement therapy with recombinant human GAA (rh-GAA) still remains a research area. We report the case of a 24-year-old student admitted to the Department of Pulmonary Diseases because of severe respiratory insufficiency. Clinical symptoms such as dyspnea, muscular weakness and increased daytime sleepiness had been progressing for 2 years. Clinical examination and increased blood levels of CK suggested muscle pathology. Histopathological analysis of muscle biopsy, performed under electron microscope, confirmed the presence of vacuoles containing glycogen. Specific enzymatic activity of alpha-glucosidase was analyzed confirming Pompe disease. The only effective method to treat respiratory insufficiency was bi-level positive pressure ventilation. Respiratory rehabilitation was instituted and is still continued by the patient at home. A high-protein, low-sugar diet was proposed for the patient. Because of poliglobulia low molecular weight heparin was prescribed. The patient is eligible for experimental replacement therapy with rh-GAA.
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PMID:[Adult form of Pompe disease]. 1900 70