U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Synonyms
Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness; Mitochondrial myopathy with lactic acidosis
Modes of inheritance
No inheritance data available (Orphanet)

Summary

A rare metabolic myopathy 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. [from ORDO]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IPLA2-2, IPLA2G, MMLA, PNPLA-gamma, iPLA2gamma, PNPLA8
    Summary: patatin like phospholipase domain containing 8

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.