Document Detail

A new patient with alpha-ketoglutaric aciduria and progressive extrapyramidal tract disease.
MedLine Citation:
PMID:  7726379     Owner:  NLM     Status:  MEDLINE    
A 4.5-year-old boy with chronic progressive encephalopathy is described. The clinical presentation initially included seizures and hypotonia which later evolved into severe extrapyramidal disease and dementia. The gas chromatography/mass spectrometry (GC/MS) analysis of urine indicated that alpha-ketoglutarate was increased 210 times and aconitic acid 80 times. No disturbance of acid/base balance, lactic acid or ammonia metabolism accompanied this clinical picture. The fibroblasts contained 29% of normal alpha-ketoglutarate dehydrogenase activity, while the activity of another mitochondrial marker enzyme, glutamate dehydrogenase, was normal. The neuroimaging studies revealed bilateral striatal necrosis. The clinical and biochemical findings were almost identical to two previously reported patients. Experience with this patient emphasizes the need for detailed organic acid biochemical investigation in any progressive encephalopathy and that extrapyramidal tract signs should evoke the possibility of alpha-ketoglutaric aciduria, among other 'neurologic organic acidemias'.
A al Aqeel; M Rashed; P T Ozand; G G Gascon; Z Rahbeeni; S al Garawi; A al Odaib; J Brismar
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Brain & development     Volume:  16 Suppl     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1995-05-22     Completed Date:  1995-05-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  33-7     Citation Subset:  IM    
Department of Pediatrics, Armed Forces Hospital, Riyadh, Saudi Arabia.
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MeSH Terms
Basal Ganglia Diseases / genetics,  pathology*,  urine
Child, Preschool
Fibroblasts / enzymology
Gas Chromatography-Mass Spectrometry
Glutamate Dehydrogenase / metabolism
Ketoglutaric Acids / urine*
Magnetic Resonance Imaging
Metabolism, Inborn Errors / genetics,  pathology*,  urine
Reg. No./Substance:
0/Ketoglutaric Acids; 328-50-7/alpha-ketoglutaric acid; EC Dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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