ley syndrome

ley syndrome

NARP syndrome (from: neurogenic muscle weakness, ataxy, andretinitis pigmentosa, 551500) develops with defects in mitochondrial DNA (including the MTATP ATP synthetase gene). Clinically: manifestations of Ley’s syndrome. Ley’s syndrome X-linked (308930, deficiency of one of the components of the pyruvate dehydrogenase complex, K recessive). gay PC, p). Ataxia with lactic acidosis. ICD. G31.8 Other specified degenerative diseases of the nervous system Subacute necrotizing encephalopathy [Leig’s disease] MSH. Leigh syndrome (161700, 256000, 266150. 308930. 600857) Literature. Leigh D: Subacute necrotizing encephalomyelopathy in an infant./ Neural. neurosurgery. Psychiatry. 14: 216-221, 1951; Shevell M et al: Cerebral dysgenesis and lactic acidemia: an MR1/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediat. Neuro. 11: 224-229, 1994; Lissens W et al: Mutation analysis of the pyruvate dehydrogenase E(l)a gene in eight patients with a pyruvate dehydrogenase complex deficiency. Hum. Mutat. 7:46-51, 1996