Format

Send to

Choose Destination
Pediatr Neurol. 2002 Aug;27(2):141-4.

L-2-hydroxyglutaric aciduria in two siblings.

Author information

1
Department of Pediatrics, Faculty of Medicine and Health Sciences; United Arab Emirates University, Al Ain, United Arab Emirates.

Abstract

Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female. Magnetic resonance imaging revealed bilateral symmetrical abnormal signal in the subcortical white matter, internal and external capsules, basal ganglia, and dentate nuclei. The underlying metabolic defect, which is likely inherited in an autosomal recessive mode, remains unknown in this disorder.

PMID:
12213617
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center