short chain acyl-CoA dehydrogenase deficiency
Findings
No curated finding names short chain acyl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
Definition from the Mondo Disease Ontology (MONDO:0008722), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
34 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.
- Global developmental delayHPOHP:0001263
- 8 of 10 reported patients
- HypotoniaHPOHP:0001252
- 8 of 10 reported patients
- Elevated circulating fatty acylcarnitine concentrationHPOHP:0045045
- Frequent (30% to 79% of cases)
- Ethylmalonic aciduriaHPOHP:0003219
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPO
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.
- ACADSHGNC:90
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: short chain acyl-CoA dehydrogenase deficiency
- Also called
- ACADS deficiencyacyl-CoA dehydrogenase, short-chain deficiencySCADSCAD deficiencySCADDShort Chain Acyl CoA Dehydrogenase Deficiencyshort-chain acyl-CoA dehydrogenase deficiency (SCAD)short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)