Renal tubular acidosis (Fanconi syndrome) may be present. Of note, significant elevated levels of ammonia, decreased blood glucose, and organic aciduria are usually not present. [ncbi.nlm.nih.gov]

Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes. 2004;53 Suppl 1:S103-109. [ Links ] 30. Anglin RE, Garside SL, Tarnopolsky MA, Mazurek MF, Rosebush PI. [scielo.org.pe]

• Failure to Thrive

  Patients are brought to medical attention most often for failure to thrive related to dysphagia and gastrointestinal distress. It is during this first examination that diffuse hypotonia is commonly noted. [ncbi.nlm.nih.gov]

Symptomatic treatments including antiseizure medication to control seizures are an important part of treatment. Quality of life can improve significantly if seizures can be controlled without further adverse effects. [ncbi.nlm.nih.gov]

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta. 2012;1822(6):1019-29. [ Links ] 19. Sproule DM, Kaufmann P. [scielo.org.pe]

Although patients with mutations in core subunits have a significantly poorer prognosis than patients with mutations in noncore subunits, the variability in prognosis is extremely high.7 With current genetic diagnostic technology, genetic mutations in [ncbi.nlm.nih.gov]

However, some cases do demonstrate involvement of the anterior putamen, dorsal mesencephalon, and dorsal pons.36,68 The etiology of the heterogeneity of MRI findings within and between specific genetic etiologies is not clear. [ncbi.nlm.nih.gov]

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet. 1998;63(2):447-54. [ Links ] 8. [scielo.org.pe]

This wide range of components of mitochondrial pathophysiology produces a spectrum of disease. [ncbi.nlm.nih.gov]

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial. J Neurol Neurosurg Psychiatry. 2019;90(5):529-36. [ Links ] 41. Lin C-M, Thajeb P. [scielo.org.pe]

Physiotherapy and pharmacotherapy for neuromuscular concerns, appropriate feeding methods to prevent malnutrition and aspiration, and aggressive treatment of fever and infections are further important treatment parameters to hopefully improve quality [ncbi.nlm.nih.gov]