期刊
MITOCHONDRION
卷 15, 期 -, 页码 59-64出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2014.01.003
关键词
Leucoencephalopathy with cysts; Pyruvate dehydrogenase deficiency; Hyperglycinemia; NFU1; Lipoic acid
资金
- Association Francaise contre les Myopathies [15947]
- Fondation Bettencourt
- Association Noa Luu
- Association Nos Anges
- Fondation Lejeune
Lipoic acid metabolism defects are new metabolic disorders that cause neurological, cardiomuscular or pulmonary impairment. We report on a patient that presented with progressive neurological regression suggestive of an energetic disease, involving leukoencephalopathy with cysts. Elevated levels of glycine in plasma, urine and CSF associated with intermittent increases of lactate were consistent with a defect in lipoic acid metabolism. Support for the diagnosis was provided by pyruvate dehydrogenase deficiency and multiple mitochondrial respiratory chain deficiency in skin fibroblasts, as well as no lipoylated protein by western blot. Two mutations in the NFU1 gene confirmed the diagnosis. The p.Gly208Cys mutation has previously been reported suggesting a founder effect in Europe. (C) 2014 Elsevier B.V. and Mitochondria Research Society.
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