Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

[pyruvate dehydrogenase deficiency]

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 NFU 1 gene confirmed the diagnosis . The p .Gly 208 Cys mutation has previously been reported suggesting a founder effect in Europe .

Diseases
Validation

Diseases presenting "intermittent increases of lactate were consistent with a defect in lipoic acid metabolism" symptom

pyruvate dehydrogenase deficiency

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