Document Detail


Glutaric aciduria type I: a serious pitfall if diagnosed too late.
MedLine Citation:
PMID:  9377513     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the MR imaging findings in two children with glutaric aciduria type I (GA I). It is important to consider this disorder in the differential diagnosis in a child presenting with an unclear hydrocephalus or atrophy. The imaging findings consist of basal ganglia changes, frontotemporal atrophy, and retarded myelination. A definite diagnosis with an urine test and a dietary treatment can avoid encephalopathy with irreversible changes.
Authors:
T Pfluger; S Weil; A Muntau; U F Willemsen; K Hahn
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European radiology     Volume:  7     ISSN:  0938-7994     ISO Abbreviation:  Eur Radiol     Publication Date:  1997  
Date Detail:
Created Date:  1997-11-12     Completed Date:  1997-11-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9114774     Medline TA:  Eur Radiol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  1264-6     Citation Subset:  IM    
Affiliation:
Department of Radiology, Klinikum Innenstadt, University of Munich, Ziemssenstrasse 1, D-80 336 Munich, Germany.
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MeSH Terms
Descriptor/Qualifier:
Atrophy
Brain / pathology*,  radiography
Brain Damage, Chronic / diagnosis*,  etiology
Child, Preschool
Diagnosis, Differential
Female
Genes, Recessive
Glutarates / urine*
Glutaryl-CoA Dehydrogenase
Humans
Hydrocephalus / etiology
Magnetic Resonance Imaging
Male
Metabolism, Inborn Errors / diagnosis*
Oxidoreductases / deficiency*
Oxidoreductases Acting on CH-CH Group Donors*
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
0/Glutarates; 110-94-1/glutaric acid; EC 1.-/Oxidoreductases; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC 1.3.99.7/Glutaryl-CoA Dehydrogenase

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