go back

MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS)

MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS)
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES
540000
OMIM = Online Mendelian Inheritance of Men
550
mitochondrial enzyme defect
mitochondrial
G31.81
rare
maternal inheritance mitochondrial DNA
point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G
Laboratory findingsGrowth differentiation factor 15 (GDF15) inc (serum)
   L-Lactic acid inc (plasma)
   L-Lactic acid inc (cerebrospinal fluid)
   Lactate/Pyruvate ratio inc (plasma)
   Lipase inc (serum)
    pH dec (blood)
Symptomshearing defect, deafness
myopathy
strokelike episodes
   behavior, anxiety
   blindness, visual loss, visual impairment
   diabetes mellitus
   EEG abnormalities [-]
   encephalopathy
   epilepsy
   failure to thrive
   glomerulosclerosis
   headache (severe, recurrent or occipital, migraine)
   intellectual disability/intellectual developmental disorder
   lactic acidosis
   macular dystrophy
   short stature
   vomiting
    cardiac arrhythmia, dysrhythmia
    cardiomyopathy
    cataract
    Fanconi syndrome
    gastrointestinal hemorrhage (bleeding)
    heart failure, cardiac failure
    hemiparesis/hemiplegia/hemiparetic cerebral palsy
    hydrocephalus
    hypotonia
    infantile spasms
    mental retardation
    microcephaly (<2 SD for age)
    motor retardation
    MRI, brain, gray matter abnormalities [-]
    muscle weakness
    myopathy, ragged red fibers
    onset, adolescent
    onset, adulthood
    onset, childhood
    optic atrophy
    pancreatitis
    paresis
    pericardial effusion
    progressive neurologic defect
    renal failure, acute/chronic
    seizures
    Single Photon Emission Computed Tomography (SPECT), abnormalities