methylmalonate semialdehyde dehydrogenase deficiency
MONDO:0013579Mondo
Findings
No curated finding names methylmalonate semialdehyde dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 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.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Beta-alaninuriaHPOHP:0020079
- 1 of 1 reported patient
- Broad halluxHPOHP:0010055
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated urinary 3-aminoisobutyric acidHPOHP:0045034
- 1 of 1 reported patient
- Elevated urinary 3-hydroxybutyric acidHPOHP:0040155
- 1 of 1 reported patient
- Elevated urinary 3-hydroxyisobutyric acid levelHPOHP:6000607
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
Show the remaining 17
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
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.
- ALDH6A1HGNC:7179
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2026
Where it sits
Other names
3 names
Resolves to: methylmalonate semialdehyde dehydrogenase deficiency
- Also called
- developmental delay due to ALDH6A1 deficiencydevelopmental delay due to methylmalonate semialdehyde dehydrogenase deficiencydevelopmental delay due to MMSDH deficiency