MELAS syndrome

Also known as: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes

Maternally inherited stroke-like syndrome.

Medical specialty: Neurology
Subspecialty: Neurology / Mitochondrial disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, typical onset 2–40 years, usually before 40
Gene(s) involved: MT-CO3, MT-ND1, MT-ND5, MT-TH, MT-TK, MT-TL1, MT-TQ, MT-TS1, POLG

Etiology & mechanism

MT-TL1 mutation.

Gene(s) involved (9)

MT-CO3MT-ND1MT-ND5MT-THMT-TKMT-TL1MT-TQMT-TS1POLG

Symptoms & signs (8)

cognitive declinediabeteslactic acidosismigraine-like headacheseizuressensorineural deafnessshort staturestroke-like episodes

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.