Document Detail


Clinical presentations of patients with polyol abnormalities.
MedLine Citation:
PMID:  15248099     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Since our description of a patient with leukoencephalopathy and highly elevated polyols in the brain and body fluids, we started screening for polyol abnormalities in patients highly suspected of a metabolic disorder. We identified four additional patients with consistent abnormalities in sugar and polyol profiles in body fluids. The clinical, neuroimaging, and biochemical findings of the five patients detected so far are described in the present paper. In four patients neurological problems dominated the clinical picture, whereas liver failure dominated in the other patient. The sugar and polyol profiles were abnormal in body fluids in all patients, but the profiles were different in individual patients. A deficiency of transaldolase was found in the patient presenting with liver failure. We were not able to identify the basic defect in the four patients with predominantly neurological problems. The differences in clinical picture, MRI abnormalities, and sugar and polyol profiles in these patients suggest that the underlying defects may be different. Whether the abnormal sugar and polyol profiles are directly related to the cause of disease via defects in polyol metabolism or transport remains to be elucidated.
Authors:
J H J Huck; N M Verhoeven; J M van Hagen; C Jakobs; M S van der Knaap
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuropediatrics     Volume:  35     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-07-12     Completed Date:  2004-10-19     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  167-73     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Brain / metabolism,  pathology
Child
Child, Preschool
Female
Humans
Infant
Male
Nervous System Diseases / etiology*,  metabolism*
Pentose Phosphate Pathway / physiology
Sugar Alcohols / metabolism*
Chemical
Reg. No./Substance:
0/Sugar Alcohols

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