OMIM = Online Medalian Inheritance of Men
  • coenzyme Q10
  • corticosteroids
  • dichloroacetate
  • sodium succinate
  • vitamin B1 (thiamine)
maternal inheritance mitochondrial DNA
point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G
cardiac arrhythmia, dysrhythmia
diabetes mellitus
failure to thrive
Fanconi syndrome
gastrointestinal hemorrhage (bleeding)
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
heart failure, cardiac failure
hemiparesis/hemiplegia/hemiparetic cerebral palsy
infantile spasms
lactic acidosis
macular dystrophy
mental retardation
microcephaly (<2 SD for age)
motor retardation
muscle weakness
myopathy, ragged red fibers
onset, adolescent
onset, adulthood
onset, childhood
optic atrophy
pericardial effusion
progressive neurologic defect
renal failure, acute/chronic
strokelike episodes
laboratory finding
L-Lactic acid2.006.000.901.80mmol/lblood
L-Lactic acid 0.501.80mmol/lcerebrospinal fluid
Lactate/Pyruvate ratio20.0040.0011.0018.00no unitblood
Lipase 18.0095.00U/lserum
pH 7.357.45decreasedblood
MRI, brain, gray matter abnormalities -
Single Photon Emission Computed Tomography (SPECT), abnormalities -
EEG abnormalities -
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