methylmalonic aciduria, cblA type
Findings
No curated finding names methylmalonic aciduria, cblA type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.
Definition from the Mondo Disease Ontology (MONDO:0009613), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Elevated serum anion gapHPOHP:0031962
- 1 of 1 reported patient
- Elevated urine 2-methylcitric acid levelHPOHP:0034662
- 1 of 1 reported patient
- Elevated urine 3-hydroxypropionic acid levelHPOHP:0034661
- 1 of 1 reported patient
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- KetonuriaHPOHP:0002919
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.
- MMAAHGNC:18871
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: methylmalonic aciduria, cblA type
- Also called
- cobalamin A diseasecobalamin B diseasemethylmalonic acidemia cblA typemethylmalonic acidemia, cblA typemethylmalonic aciduria cblA typemethylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA typeMethylmalonic aciduria, vitamin B12-responsive, cblA typevitamin B12-responsive methylmalonic acidemia type cblAvitamin B12-responsive methylmalonic aciduria type cblA