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DeCS
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Descriptor English:
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Glycogen Storage Disease Type IV
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Descriptor Spanish:
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Enfermedad del Almacenamiento de Glucógeno Tipo IV
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Descriptor Portuguese:
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Doença de Depósito de Glicogênio Tipo IV
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Synonyms English:
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Amylopectinosis
Andersen Disease
Brancher Deficiency
Glycogenosis 4
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Tree Number:
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C16.320.565.202.449.540
C18.452.648.202.449.540
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Definition English:
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An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. |
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Indexing Annotation English:
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do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis
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History Note English:
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1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988
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Allowable Qualifiers English:
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Record Number:
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24394
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Unique Identifier:
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D006011
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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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