Document Detail


Late-onset acid maltase deficiency in a Chinese girl.
MedLine Citation:
PMID:  1821829     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
K S Wong; C Lai; H K Ng
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical and experimental neurology     Volume:  28     ISSN:  0196-6383     ISO Abbreviation:  Clin Exp Neurol     Publication Date:  1991  
Date Detail:
Created Date:  1992-08-25     Completed Date:  1992-08-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7909724     Medline TA:  Clin Exp Neurol     Country:  AUSTRALIA    
Other Details:
Languages:  eng     Pagination:  210-8     Citation Subset:  IM    
Affiliation:
Department of Medicine, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin.
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MeSH Terms
Descriptor/Qualifier:
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:
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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