| Late-onset acid maltase deficiency in a Chinese girl. | |
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MedLine Citation:
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PMID: 1821829 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Late-onset acid maltase deficiency is a rare disorder. We describe a nineteen year old Chinese girl who presented with diarrhoea, limb-girdle weakness and respiratory failure requiring mechanical ventilation. Electromyography showed polyphasic potentials and myotonic discharges. Muscle biopsy revealed features characteristic of acid maltase deficiency. Assay of acid alpha-glucosidase in cultured skin fibroblasts confirmed the diagnosis. Supportive treatment with nocturnal intermittent positive pressure ventilation via a nasal mask and dietary supplementation with branched-chain aminoacids proved effective in this patient. The cause of diarrhoea remained uncertain. This is the first documented case of acid maltase deficiency in Chinese adult. |
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Authors:
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K S Wong; C Lai; H K Ng |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical and experimental neurology Volume: 28 ISSN: 0196-6383 ISO Abbreviation: Clin Exp Neurol Publication Date: 1991 |
Date Detail:
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Created Date: 1992-08-25 Completed Date: 1992-08-25 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7909724 Medline TA: Clin Exp Neurol Country: AUSTRALIA |
Other Details:
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Languages: eng Pagination: 210-8 Citation Subset: IM |
Affiliation:
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Department of Medicine, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Biopsy Diagnosis, Differential Female Glucan 1,4-alpha-Glucosidase / deficiency* Glycogen Storage Disease Type II / complications, diagnosis*, enzymology Humans Muscles / pathology, ultrastructure alpha-Glucosidases |
| Chemical | |
Reg. No./Substance:
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EC 3.2.1.20/alpha-Glucosidases; EC 3.2.1.3/Glucan 1,4-alpha-Glucosidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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