Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in HADHA Gene

We report a ۴.۵-year-old girl with recurrent episodes of bilateral lower limb weakness following periods of upper respiratory tract infection since the age of ۱.۵ years. Nerve conduction velocity and electromyography studies suggested distal motor neuropathy. The whole exome sequencing analysis revealed a homozygous variant, c.۹۵۵G>A (p.Gly۳۱۹Ser), of the mitochondrial trifunctional protein α-subunit (HADHA) gene. This variant has already been reported as pathogenic in an Iranian consanguineous family with a probable diagnosis of Charcot-Marie-Tooth disease. In addition, this variant, in compound heterozygosity with another likely pathogenic variant, has been known to be linked with mitochondrial trifunctional protein deficiency.

کلیدواژه ها:

HADHA gene ، Fatty acid ß-oxidation ، Mitochondrial trifunctional protein ، Neuropathy ، Whole Exome Sequencing