MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis & Stroke-like episodes) syndrome

Genetics

• genetically heterogenous disorder
• associated with defects in MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TL1

Clinical manifestations

• episodic vomiting,
• seizures
• recurrent cerebral insults resembling strokes causing hemiparesis, hemianopsia, or cortical blindness

Laboratory

• MT-ND1 gene mutation
• MT-ND4 gene mutation
• MT-ND5 gene mutation
• MT-ND6 gene mutation
• MT-TL1 gene mutation

Management

• specific treatment not available
• limited success in some clinical trials with
  • Coenzyme Q10
  • riboflavin
  • vitamin C
  • vitamin K

More general terms

• mitochondrial encephalomyopathy
• metabolic brain disease
• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/540000