malonic aciduria
MONDO:0009556Mondo
Findings
No curated finding names malonic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).
Definition from the Mondo Disease Ontology (MONDO:0009556), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
27 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.
- Reduced malonyl-CoA decarboxylase activity in cultured fibroblastsHPOHP:6000355
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 5 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- DystoniaHPOHP:0001332
- Very frequent (80% to 99% of cases)
- Elevated urine malonic acid levelHPOHP:0034657
- Very frequent (80% to 99% of cases)
- Methylmalonic aciduriaHPOHP:0012120
- Very frequent (80% to 99% of cases)
Show the remaining 15
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- Metabolic acidosisHPOHP:0001942
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 3 of 9 reported patients
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- 5 of 9 reported patients
- DiarrheaHPOHP:0002014
- Occasional (5% to 29% 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.
- MLYCDHGNC:7150
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: malonic aciduria
- Also called
- malonyl-CoA decarboxylase deficiency