Article
Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
Molecular medicine reports - 1 Feb 2022
Yang Jinling, Yuan Dejian, Tan Xiaohui, Zeng Yexi, Tang Ning, Chen Dayu, Tan Jianqiang, Cai Ren, Huang Jun, Yan Tizhen
Abstract excerpt
Mitochondrial trifunctional protein (MTP) deficiency (MTPD; MIM 609015) is a metabolic disease of fatty acid oxidation. MTPD is an autosomal recessive disorder caused by mutations in the HADHA gene, encoding the α‑subunit of a trifunctional protease, or in the HADHB gene, encoding the β‑subunit of a trifunctional protease. To the best of our knowledge, only two cases of families with MTPD due to HADHB gene...
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