Format

Send to

Choose Destination
Mitochondrion. 2014 Mar;15:59-64. doi: 10.1016/j.mito.2014.01.003. Epub 2014 Jan 22.

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

Author information

1
Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France.
2
Department of Biochemistry, Hospital Bicêtre, Le Kremlin Bicêtre, France.
3
Department of Pediatric Radiology, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France.
4
Department of Molecular Genetics, CNRS UMR 5535, Montpellier, France.
5
Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France; Department of Biochemistry, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France.
6
Paris-Sud University, CNRS-UMR8621, Genetics and Microbiology Institute, Orsay, France.
7
Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France. Electronic address: pascale.delonlay@nck.aphp.fr.

Abstract

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.

KEYWORDS:

Hyperglycinemia; Leucoencephalopathy with cysts; Lipoic acid; NFU1; Pyruvate dehydrogenase deficiency

PMID:
24462778
DOI:
10.1016/j.mito.2014.01.003
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center