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mitochondrial myopathy-lactic acidosis-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial myopathy-lactic acidosis-deafness syndrome

MONDO:0016825

Also known as:mitochondrial myopathy with lactic acidosismitochondrial myopathy-lactic acidosis-hearing loss syndromeMMLA

Overview

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.

GeneticsAutosomal recessive · PNPLA8 (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating pyruvate concentration, Dystonia, Dysmetria, and Seizure and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Dystonia, Seizure, Focal impaired awareness seizure

Genetic Landscape

PNPLA8 function has not been fully characterized.

Mitochondrial myopathy-lactic acidosis-deafness syndrome is associated with mutations in the PNPLA8 gene on chromosome 7.

Diagnosis

Genetic testing for PNPLA8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial myopathy-lactic acidosis-deafness syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 16 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial myopathy-lactic acidosis-deafness syndrome.

75 publications have been identified in PubMed for mitochondrial myopathy-lactic acidosis-deafness syndrome. Research spans Case Report / Case Series (41%), Basic Science / Preclinical (31%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	31	41%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:251950

Orphanet

European rare disease database

Orphanet:2597

GARD

Genetic and Rare Diseases Info Center

GARD:3682

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

mitochondrial myopathy-lactic acidosis-deafness syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Mitochondrial DNA A3243G variant-associated MELAS: Recent advances in clinical trials, therapeutic interventions, and disease-modifying strategies.

mitochondrial myopathy-lactic acidosis-deafness syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Mitochondrial DNA A3243G variant-associated MELAS: Recent advances in clinical trials, therapeutic interventions, and disease-modifying strategies.