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DeCS
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Descriptor English:
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Glycogen Storage Disease Type III
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Descriptor Spanish:
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Enfermedad del Almacenamiento de Glucógeno Tipo III
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Descriptor Portuguese:
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Doença de Depósito de Glicogênio Tipo III
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Synonyms English:
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Cori's Disease
Debrancher Deficiency
Forbes Disease
Glycogen Debranching Enzyme Deficiency
Glycogenosis 3
Limit Dextrinosis
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Tree Number:
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C16.320.565.202.449.520
C18.452.648.202.449.520
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Definition English:
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An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent. |
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Indexing Annotation English:
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do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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History Note English:
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1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 use GLYCOGENOSIS 1975-1988
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Allowable Qualifiers English:
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Record Number:
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24393
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Unique Identifier:
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D006010
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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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