mitochondrial DNA depletion syndrome 4a
Findings
No curated finding names mitochondrial DNA depletion syndrome 4a yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Definition from the Mondo Disease Ontology (MONDO:0008758), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Rapidly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
45 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.
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- 3 of 3 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 3 of 3 reported patients
- Acute hepatic failureHPOHP:0006554
- 2 of 3 reported patients
- AscitesHPOHP:0001541
- 2 of 3 reported patients
- Bile duct proliferationHPOHP:0001408
- 2 of 3 reported patients
- Cerebellar atrophyHPO
Show the remaining 33
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- ComaHPOHP:0001259
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
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.
- POLGHGNC:9179
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
15 names
Resolves to: mitochondrial DNA depletion syndrome 4a
- Also called
- AHDAHSAlper syndromeAlper's diseaseAlper's syndromeAlpers DiseaseAlpers Huttenlocher diseaseAlpers Huttenlocher syndromeAlpers progressive infantile poliodystrophyAlpers progressive sclerosing poliodystrophyAlpers syndromeAlpers-HuttenlocherAlpers-Huttenlocher syndromemitochondrial DNA depletion syndrome type 4aprogressive neuronal degeneration of childhood with liver disease