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Article

Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum.

Molecular genetics & genomic medicine - 1 Jan 2024

Han Dong, Wang Lihong, Zhao Chen, Li Juan, Huang Chenggang, Song Wenxia, Wang Haiwei, Li Xiaoze, Tao Yilun

Abstract excerpt

BACKGROUND: Hereditary tyrosinemia type III (HT III) is an extremely rare form of tyrosinemia, characterized by autosomal recessive inheritance and biallelic mutations in the HPD gene. The clinical presentation of HT III is variable and poorly understood, with symptoms ranging from developmental delay and intellectual impairment to seizures and intermittent ataxia. This study aimed to provide further insights...

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Identifiers

PMID: 37817461
DOI: 10.1002/mgg3.2298
PMCID: PMC10767433

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