Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient

Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient

Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A...

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Bibliographic Details
Main Authors: Ruoyi Ishikawa, Masahiro Nakamori, Megumi Takenaka, Shiro Aoki, Yu Yamazaki, Akihiro Hashiguchi, Hiroshi Takashima, Hirofumi Maruyama
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Neurology
Subjects:
MTP deficiency
peripheral neuropathy
higher brain dysfunction
brain calcification
cerebral gadolinium enhancement
CNS demyelination
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1187822/full

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