2-aminoadipic 2-oxoadipic aciduria
Synonyms: Alpha-aminoadipic aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare disorder of lysine and tryptophan metabolism characterized by 2-aminoadipic and 2-oxoadipic aciduria. Patients may also present with increased urinary excretion of alpha-hydroxyadipic acid. Variable clinical presentations have been found in patients including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy, and behavioral disorders (most commonly attention deficit hyperactivity disorder). However, many individuals with the biochemical phenotype are completely asymptomatic and thus the clinical significance of the condition is questionable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2-aminoadipic 2-oxoadipic aciduria | Alpha-aminoadipic aciduria |
| fr | Acidurie 2-aminoadipique 2-oxoadipique | Acidurie alpha-aminoadipique |
| de | 2-Aminoadipin-2-Oxo-Adipin-Azidurie | Alpha-Aminoadipinazidurie |
| es | Aciduria 2-aminoadípica 2-oxoadípica | Aciduria alfa-aminoadípica |
| it | Aciduria 2-aminoadipica 2-ossoadipica | Aciduria alfa-aminoadipica |
| nl | 2-aminoadipine 2-oxoadipine-acidurie | Alfa-aminoadipineacidurie |
| pt | Acidúria 2-aminoadípica | |
| pl | Acyduria 2-aminoadypino 2-oksyadypinowa | Acyduria alfa-aminoadypinowa |
| cs | 2-aminoadipová 2-oxoadipová acidurie | Alfa-aminoadipová acidurie |
| uk | 2-аміноадипінова 2-оксоадипінова ацидурія | Альфа-аміноадипінова ацидурія |
| zh | 2-氨基己二酸2-氧己二酸尿症 | α-氨基己二酸尿 |
| tr | 2-aminoadipik 2-oksoadipik asidüri | Alfa-aminoadipik asidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 204750 | E | validated | |
| ICD-10 | E72.3 | NTBT | attributed | validated |
| ICD-11 | 5C50.4 | NTBT | attributed | validated |
| MONDO | 0008774 | E | validated | |
| UMLS | C1859817 | 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 (2):
- ORPHA:289832Disorder of lysine and hydroxylysine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHTKD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23537 | ENSG00000181192 | 614984 | 10p14 | dehydrogenase E1 and transketolase domain containing 1 | 23141293[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 23141293[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
11 annotations · validated 2025-08-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0410309 | Alpha-aminoadipic aciduria | |
| Frequent (79-30%) | ||
| HP:0034465 | 2-hydroxyadipic aciduria | |
| HP:6000278 | Elevated circulating 2-aminoadipic acid concentration | |
| Occasional (29-5%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23141293[PMID]_25860818[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79154
- This record as JSON: /data/d/79154.json