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 "elevated levels" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

aniridia

cadasil

canavan disease

congenital adrenal hyperplasia

epidermolysis bullosa simplex

erythropoietic protoporphyria

esophageal carcinoma

fabry disease

familial hypocalciuric hypercalcemia

hereditary cerebral hemorrhage with amyloidosis

inclusion body myositis

kabuki syndrome

omenn syndrome

phenylketonuria

primary effusion lymphoma

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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