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DeCS
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Descriptor English:
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Glycogen Storage Disease Type II
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Descriptor Spanish:
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Enfermedad del Almacenamiento de Glucógeno Tipo II
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Descriptor Portuguese:
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Doença de Depósito de Glicogênio Tipo II
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Synonyms English:
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Generalized Glycogenosis
Glycogenosis 2
Pompe Disease
Acid Maltase Deficiency Disease
Lysosomal alpha-1,4-Glucosidase Deficiency Disease
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Tree Number:
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C10.228.140.163.100.435.340
C16.320.565.189.435.340
C16.320.565.202.449.500
C16.320.565.595.554.340
C18.452.132.100.435.340
C18.452.648.189.435.340
C18.452.648.202.449.500
C18.452.648.595.554.340
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Definition English:
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An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) |
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See Related English:
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Glucan 1,4-alpha-Glucosidase
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History Note English:
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1989(1975); use GLYCOGENOSIS 1975-1988
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Allowable Qualifiers English:
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Record Number:
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24392
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Unique Identifier:
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D006009
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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