Contents

Search

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: 1) specific treatment not available 2) limited success in some clinical trials with a) Coenzyme Q10 b) riboflavin c) vitamin C d) vitamin K

Related

MELAS gene mutation

General

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

Database Correlations

OMIM 540000

References

  1. Cotran et al Robbins Pathologic Basis of Disease, 5th ed. W.B. Saunders Co, Philadelphia, PA 1994 pg 1339
  2. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998