MELAS syndrome

Term ID

DOID:3687

Synonyms

• MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES

Definition

A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes

References

• ICD10CM:E88.41
• MESH:D017241
• NCI:C84885
• OMIM:540000
• SNOMEDCT_US_2023_03_01:39925003
• UMLS_CUI:C0162671

Ontology

Human Disease   ( DOID:3687 )