acyl-CoA dehydrogenase 9 deficiency
Findings
No curated finding names acyl-CoA dehydrogenase 9 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0012624), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
30 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 activity of mitochondrial complex IHPOHP:0011923
- 4 of 4 reported patients
- Obligate (100% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Lactic acidosisHPOHP:0003128
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- EncephalopathyHPOHP:0001298
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- Decreased circulating carnitine concentrationHPOHP:0003234
Show the remaining 18
- Fatigable weaknessHPOHP:0003473
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Frequent (30% to 79% of cases)
- Hepatic steatosisHPOHP:0001397
- Frequent (30% to 79% of cases)
- HyperammonemiaHPOHP:0001987
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- 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.
- ACAD9HGNC:21497
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: acyl-CoA dehydrogenase 9 deficiency
- Also called
- ACAD9 deficiencymitochondrial complex I deficiency due to ACAD9 deficiencymitochondrial complex I deficiency, nuclear type 20