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Summary
LEIGH`S SYNDROME, SUBACUTE NECROTIZING ENCEPHALOPATHY, SNE
ENCEPHALOPATHY, NECROTIZING
256000
OMIM = Online Medalian Inheritance of Men
506
19p13, 11q13, 11q13, 9q34
  • dichloroacetate
  • THAM
  • vitamin B1 (thiamine)
rare (>130 cases)
autosomal recessive, mitochondrial
symptoms
Amino acids, plasma
Amino acids, urine
apnea
ataxia
clumsiness, coordination defect or unsteadiness
dystonia
encephalopathy
failure to thrive
hearing defect, deafness
hypotonia
lactic acidosis
liver involvement (acute, chronic, hepatitis)
motor retardation
muscle weakness
nystagmus
onset, child
onset, infant
ophthalmoplegia
optic atrophy
seizures
tremor or twitching
weight loss
laboratory finding
Alanine800.001200.00143.00439.00-Ámol/lplasma
Alanine0.000.0023.0071.00increasedurinechildhood
Lactate1.7012.000.502.10mmol/lspinal fluid
Lactate1.004.000.901.80mmol/lplasma
Cytochrome c oxidase
Complex I activity
CT, brain, abnormalities -
MRI, brain, gray matter abnormalities -
MRS, brain, basal ganglia, lactate -
Lactate0.000.00 increasedurineno data
Fumaric acid0.000.00 increasedurineno data
Succinate0.000.00 increasedurineno data
Literature
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