mitochondrial myopathy-lactic acidosis-deafness syndrome
Findings
No curated finding names mitochondrial myopathy-lactic acidosis-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016825), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased CSF 5-methyltetrahydrofolate concentrationHPOHP:0012446
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated serum anion gapHPOHP:0031962
- 1 of 1 reported patient
- FatigueHPOHP:0012378
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPLA8HGNC:28900
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: mitochondrial myopathy-lactic acidosis-deafness syndrome
- Also called
- mitochondrial myopathy with lactic acidosismitochondrial myopathy-lactic acidosis-hearing loss syndrome