L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.

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Authors
Mahmoud, Ahmed Ali Mahmoud
Issue Date
2024-04-01
Type
Article
Peer-Reviewed Publication
Keywords
Aciduria
Alcohol oxidoreductases
Autosomal disorder
Brain
Case report
Child
Egypt
Female
L-2-hydroxyglutaric aciduria
L-2-hydroxyglutarate dehydrogenase
L2HGDH protein
Magnetic resonance imaging
Male
Metabolic brain disease
Peer-reviewed article
Psychomotor retardation
Quadriparesis
Siblings
White matter lesions
Journal
Neurocase
Volume
30
Issue
2
Research Projects
Organizational Units
Journal Issue
Alternative Title
Abstract
L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.
Description
Received 15th December 2022. Accepted 15th April 2024. Published online 25th May 2024.
Citation
Fayed AI, Mohamed MT, Abed E, Meshref M, Ali Mahmoud A. L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt. Neurocase. 2024 Apr;30(2):77-82. doi: 10.1080/13554794.2024.2346978. Epub 2024 May 25. PMID: 38795053.
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