A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature

A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature

Abstract Background Pathogenic HSD17B10 gene variants cause HSD10 mitochondrial disease (HSD10 MD), which results in a wide spectrum of symptoms ranging from mild to severe. Typical symptoms include intellectual disability, choreoathetosis, cardiomyopathy, neurodegeneration, and abnormal behavior. T...

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Bibliographic Details
Main Authors: Tao Jiang, Wenxian Ouyang, Haiyan Yang, Shuangjie Li
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
HSD10 mitochondrial disease
HSD17B10 gene
Variant
Cholestatic hepatitis
Metabolic disorder
Online Access:https://doi.org/10.1186/s13023-024-03513-2

Internet

https://doi.org/10.1186/s13023-024-03513-2

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