Abstract |
L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease resulted from the mutated gene L-2- hydroxyglutarate dehydrogenase (L2HGDH). We presented a female case who inherited the disease from her consanguineous relatives and suffered from cognitive impairment, seizure, and ataxia. Using cerebral magnetic resonance imaging (MRI), urine organic acid test, and high-throughput DNA sequencing, a novel homozygous missense mutation was found in the L2HGDH gene, namely c 0.847 G>A/p. G283R in exon 7. Summarizing the clinical information of the patient with L-2-HGA exhibited to be beneficial for the diagnosis of this rare disease. In summary, the pathogenic missense mutation in the case was reliably confirmed using the bioinformatics analysis.
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Authors | Yanjun Liu, Zhijun Wu, Wenjie Wang, Hongmei Han, Yongxiang Wang, Tiancheng Wang |
Journal | Clinical neurology and neurosurgery
(Clin Neurol Neurosurg)
Vol. 225
Pg. 107529
(02 2023)
ISSN: 1872-6968 [Electronic] Netherlands |
PMID | 36610237
(Publication Type: Case Reports)
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Copyright | Copyright © 2023. Published by Elsevier B.V. |
Chemical References |
- Alcohol Oxidoreductases
- L2HGDH protein, human
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Topics |
- Humans
- Female
- Mutation, Missense
- Brain Diseases, Metabolic, Inborn
(diagnosis, genetics)
- Magnetic Resonance Imaging
- Homozygote
- Mutation
- Alcohol Oxidoreductases
(genetics)
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