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

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.

KEYWORDS:

• L-2-hydroxyglutaric aciduria
• L-2-hydroxyglutarate dehydrogenase
• autosomal disorder
• white matter lesions
• aciduria

Disclosure statement

No potential conflict of interest was reported by the author(s).

Author contributions

AIF., M.T., and AMA. treated the patient and drafted the manuscript. EA. and MM. critically reviewed and revised the manuscript. All authors made substantial contributions, drafted the manuscript, and approved the final manuscript.

Patient consent statement

Written consent was obtained from the parents.

Data availability statement

Data sharing is not applicable to this article because no datasets were generated or analyzed during the current study.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.