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Summary
MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS)
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES
540000
OMIM = Online Medalian Inheritance of Men
550
mitochondrial
  • coenzyme Q10
  • corticosteroids
  • dichloroacetate
  • sodium succinate
  • vitamin B1 (thiamine)
rare
maternal inheritance mitochondrial DNA
point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G
symptoms
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cataract
diabetes mellitus
encephalopathy
epilepsy
failure to thrive
Fanconi syndrome
gastrointestinal hemorrhage (bleeding)
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
heart failure
hemiparesis/hemiparetic cerebral palsy
hydrocephalus
hypotonia
infantile spasms
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
motor retardation
muscle weakness
myopathy, ragged red fibers
onset, adolescent
onset, adulthood
onset, childhood
optic atrophy
pancreatitis
pericardial effusion
progressive neurologic defect
renal failure, acute/chronic
seizures
strokelike episodes
vomiting
laboratory finding
L-Lactic acid2.006.000.901.80mmol/lblood
L-Lactic acid 0.502.10increasedcerebrospinal fluid
Lactate/Pyruvate ratio20.0040.0011.0018.00no unitblood
Lipase 18.0095.00increasedserum
pH 7.357.45decreasedblood
MRI, brain, gray matter abnormalities -
Single Photon Emission Computed Tomography (SPECT), abnormalities -
EEG abnormalities -
Literature
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