| 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 | |
| rare maternal inheritance mitochondrial DNA point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G | |
| Laboratory findings | Growth 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) |
| Symptoms | hearing 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 |