期刊
MOLECULAR GENETICS AND METABOLISM REPORTS
卷 5, 期 -, 页码 80-84出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2015.10.015
关键词
Mitochondrial trifunctional protein; (MTP) deficiency; HADHB gene; Peripheral neuropathy; Fatty acid oxidation
资金
- National Basic Research Program of China (973 Program) [2012CB944602]
- National Natural Science Foundation of China [81271400]
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. Repeated blood acylcarnitine analysis revealed slightly increased long-chain 3-OH-acylcarnitine levels; electromyography (EMG) suggested peripheral nerve injury; muscle biopsy confirmed a neurogenic lesion in muscle fibers, as shown by EMG. Analysis of the HADHB, which encodes long-chain 3-ketoacyl-CoA thiolase, one of the enzymes constituting mitochondrial trifunctional protein, identified homozygous missense mutation c.739C>T (p.R247C). Mitochondrial trifunctional protein deficiency is an extremely rare disorder and has not been reported in Chinese people to date. It is likely that neonatal onset, as seen in our patient, has not been reported for the neuromyopathic phenotype of mitochondrial trifunctional protein deficiency. (C) 2015 The Authors. Published by Elsevier Inc.
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