JUVENILE LEIGH DISEASE
\d͡ʒˈuːvənˌa͡ɪl lˈiː dɪzˈiːz], \dʒˈuːvənˌaɪl lˈiː dɪzˈiːz], \dʒ_ˈuː_v_ə_n_ˌaɪ_l l_ˈiː d_ɪ_z_ˈiː_z]\
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A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
By DataStellar Co., Ltd
Nearby Words
- juvenile gangliosidosis gm1
- juvenile gaucher disease
- juvenile glycogen storage disease type ii
- juvenile hormones
- juvenile huntington disease
- Juvenile Leigh Disease
- juvenile literature (pt)
- juvenile literature [publication type]
- juvenile muscular atrophy
- juvenile myoclonic epilepsies
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