Ontology highlight
ABSTRACT:
SUBMITTER: Fu X
PROVIDER: S-EPMC5471393 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Fu Xiaona X Zheng Feixia F Zhang Yao Y Bao Xinhua X Wang Shuang S Yang Yanling Y Xiong Hui H
Molecular genetics and metabolism reports 20151106
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 <i>HADHA</i> or <i>HADHB</i> mutations, had not been definitively diagnosed before she was referred to our hospital. Repeated blood acylcarnitine analysis revealed slightly increased long-chain 3-OH-acylcarnitine levels; electromyography (EMG) suggested peripheral nerve injury; muscle biopsy confirmed a neur ...[more]