Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Synonyms: Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency |
| fr | Retard de développement par déficit en méthylmalonate semialdéhyde déshydrogénase | Retard de développement par déficit en ALDH6A1 · Retard de développement par déficit en MMSDH |
| de | Entwicklungsverzögerung durch Methylmalonat-Semialdehyd-Dehydrogenase-Mangel | Entwicklungsverzögerung durch ALDH6A1-Mangel · Entwicklungsverzögerung durch MMSDH-Mangel |
| es | Retraso del desarrollo por deficiencia de metilmalonato semialdehído deshidrogenasa | Retraso del desarrollo por deficiencia de ALDH6A1 · Retraso del desarrollo por deficiencia de MMSDH |
| it | Ritardo dello sviluppo da deficit di metilmalonato semialdeide deidrogenasi | Ritardo dello sviluppo da deficit di ALDH6A1 · Ritardo dello sviluppo da deficit di MMSDH |
| nl | Ontwikkelingsachterstand door methylmalonaat-semialdehydedehydrogenasedeficiëntie | Ontwikkelingsachterstand door ALDH6A1-deficiëntie · Ontwikkelingsachterstand door MMSDH-deficiëntie |
| pt | Perturbação do desenvolvimento por deficiência de metilmalonato semialdeído desidrogenase | Perturbação do desenvolvimento por deficiência de ALDH6A1 · Perturbação do desenvolvimento por deficiência de MMSDH |
| pl | Opóźnienie rozwoju z powodu niedoboru dehydrogenazy semialdehydu metylomalonowego | Opóźnienie rozwoju z powodu niedoboru ALDH6A1 · Opóźnienie rozwoju z powodu niedoboru MMSDH |
| cs | Vývojové opoždění způsobené deficitem methylmalonátsemialdehyddehydrogenázy | Vývojové opoždění způsobené deficitem ALDH6A1 · Vývojové opoždění způsobené deficitem MMSDH |
| uk | Затримка розвитку через дефіцит метилмалонатдегідрогенази напівдегідрогенази | Затримка розвитку через дефіцит ALDH6A1 · Затримка розвитку через дефіцит MMSDH |
| zh | 甲基丙二酸半醛脱氢酶缺乏所致发育迟缓 | 甲基丙二酸半醛脱氢酶缺乏所致发育迟缓 |
| tr | Metilmalonat semialdehit dehidrogenaz eksikliğine bağlı gelişme geriliği | MMSDH eksikliğine bağlı gelişme geriliği · ALDH6A1 eksikliğine bağlı gelişme geriliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614105 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0013579 | E | validated | |
| UMLS | C5190633 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79197Disorder of branched-chain amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH6A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7179 | ENSG00000119711 | 603178 | 14q24.3 | aldehyde dehydrogenase 6 family member A1 | 21863277[PMID]_10971205[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289307
- This record as JSON: /data/d/289307.json