Document Detail

D-2-hydroxyglutaric aciduria: further clinical delineation.
MedLine Citation:
PMID:  10407777     Owner:  NLM     Status:  MEDLINE    
It has recently been recognized that D-2-hydroxyglutaric aciduria is a distinct neurometabolic disorder with a severe and a mild phenotype. Whereas the clinical and neuroimaging findings of the severe phenotype were homogeneous among the patients, the findings in the mild phenotype were much more variable, leaving the clinical picture poorly defined. We were able to collect the clinical, biochemical and neuroimaging data on an additional 8 patients with D-2-hydroxyglutaric aciduria, 4 with the severe and 4 with the mild phenotype. With the new information, it becomes clear that the mild phenotype shares the essential characteristics of the severe phenotype. The most frequent findings, regardless of the clinical phenotype, are epilepsy, hypotonia and psychomotor retardation. Additional findings, mainly occurring in the severe phenotype, are episodic vomiting, cardiomyopathy, inspiratory stridor and apnoeas. The most consistent MRI finding is enlargement of the lateral ventricles, occipital more than frontal. Regardless of the clinical phenotype, early MRI shows in addition subependymal cysts and signs of delayed cerebral maturation. Later MRI may reveal multifocal cerebral white-matter abnormalities. Two patients had vascular abnormalities, but it is as yet unclear whether these are related to D-2-hydroxyglutaric aciduria or are incidental findings.
M S van der Knaap; C Jakobs; G F Hoffmann; M Duran; A C Muntau; S Schweitzer; R I Kelley; F Parrot-Roulaud; J Amiel; P De Lonlay; D Rabier; O Eeg-Olofsson
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  22     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1999 Jun 
Date Detail:
Created Date:  1999-09-23     Completed Date:  1999-09-23     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  404-13     Citation Subset:  IM    
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
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MeSH Terms
Brain / pathology
Glutarates / urine*
Magnetic Resonance Imaging
Metabolism, Inborn Errors / pathology*
Reg. No./Substance:
0/Glutarates; 2889-31-8/alpha-hydroxyglutarate

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