| 释义 |
Leigh disease
Leigh dis·ease (lē), [MIM*256000] a rare fatal mitochondrial disorder affecting principally infants and young children, manifested as seizures, psychomotor retardation, spasticity, myoclonus, optic atrophy, cranial nerve palsies, and ataxia; due to deficiencies of cytochrome c oxidase or NADH-ubiquinone oxidoreductase or other enzymes involved in energy metabolism; pathologically, there is widespread symmetric necrosis; most often autosomal recessive transmisstion, but X-link recessive and mitochondrial inheritances have been described. Synonym(s): Leigh syndrome, necrotizing encephalomyelopathy, necrotizing encephalopathy, subacute necrotizing encephalomyelopathyLeigh dis·ease (lā di-zēz') Subacute encephalomyelopathy affecting infants, causing seizures, spasticity, optic atrophy, and dementia; the genetic causation is heterogeneous; may be associated with deficiency of cytochrome c oxidase or nicotinamide adenine dinucleotide (reduced form)-ubiquinone oxidoreductase or other enzymes involved in energy metabolism. Autosomal recessive, X-linked recessive and mitochondrial inheritance have been described; mutations have been identified in the surfeit-1 gene (SURF) on chromosome 9, in a mtDNA-encoded subunit of adenosine triphosphate synthase, in the X-linked E1-alpha subunit of pyruvate dehydrogenase, and in several subunits of mitochondrial complex I. Leigh, Denis, English psychiatrist, 1915–. Leigh disease - subacute encephalomyelopathy affecting infants. Synonym(s): subacute necrotizing encephalomyelopathy; necrotizing encephalomyelopathyLeigh syndrome |