Details of Disease

General Information of Disease (ID: DISLXPUE)

• Disease Name: Mitochondrial myopathy-lactic acidosis-deafness syndrome
• Synonyms: metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness; MMLA; mitochondrial myopathy-lactic acidosis-hearing loss syndrome; mitochondrial myopathy with lactic acidosis
• Definition: Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.
• Disease Hierarchy:
  DIS9SA7V: Mitochondrial myopathy
  DISLXPUE: Mitochondrial myopathy-lactic acidosis-deafness syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0016825
  MESH ID: C537476
  UMLS CUI: C1855033
  OMIM ID: 251950
  MedGen ID: 343245
  Orphanet ID: 2597

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNPLA8	OT9V1T5W	Strong	Autosomal recessive	[1]

References

• [1] Genetic ablation of calcium-independent phospholipase A2{gamma} leads to alterations in hippocampal cardiolipin content and molecular species distribution, mitochondrial degeneration, autophagy, and cognitive dysfunction. J Biol Chem. 2009 Dec 18;284(51):35632-44. doi: 10.1074/jbc.M109.055194.