Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family

We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, an autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnosed before she was referred to our hospital. Repeat...

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Bibliographic Details
Main Authors: Xiaona Fu, Feixia Zheng, Yao Zhang, Xinhua Bao, Shuang Wang, Yanling Yang, Hui Xiong
Format: Article
Language:English
Published: Elsevier 2015-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial trifunctional protein (MTP) deficiency
HADHB gene
Peripheral neuropathy
Fatty acid oxidation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915300501

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