Dicarboxylic aminoaciduria
Synonyms: Glutamate-aspartate transport defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dicarboxylic aminoaciduria | Glutamate-aspartate transport defect |
| fr | Hyperaminoacidurie dicarboxylique | Défaut de transport du glutamate-aspartate |
| de | Dicarboxyl-Hyperaminoazidurie | Glutamat-Aspartat-Transportdefekt |
| es | Aminoaciduria dicarboxílica | Defecto de transporte de glutamato-aspartato |
| it | Iperaminoaciduria dicarbossilica | Errore nel trasporto di glutammato-aspartato |
| nl | Dicarboxyl-aminoacidurie | Glutamaat-aspartaat-transportdefect |
| pt | Aminoacidúria dicarboxílica | Defeito no transporte de glutamato-aspartato |
| pl | Aminoacyduria dikarboksylowa | Defekt transportu glutaminianu i aspartanianu |
| cs | Dikarboxylová aminoacidurie | Defekt transportu glutamát-aspartátu |
| uk | Дикарбоксильна аміноацидурія | Дефект глутамат-аспартатного транспорту |
| zh | 二羧基氨基酸尿症 | 谷氨酸天冬氨酸转运子缺乏 |
| tr | Dikarboksilik aminoasidüri | Glutamat-aspartat taşıma defekti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222730 | E | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| ICD-11 | 5C60.Y | NTBT | index | validated |
| MONDO | 0009110 | E | validated | |
| MeSH | C536171 | E | validated | |
| UMLS | C1857253 | E | validated | |
| GARD | 1855 | 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:79166Disorder of amino acid absorption and transport
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 |
|---|---|---|---|---|---|---|---|---|
| SLC1A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10939 | ENSG00000106688 | 133550 | 9p24.2 | solute carrier family 1 member 1 | 21123949[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Specific population | Class only | Validated | 17570073[PMID]_21123949[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.76 / 100 000 | Specific population | Value and class | Validated | 17570073[PMID]_21123949[PMID] |
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
6 annotations · validated 2026-02-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032401 | Aspartic aciduria | |
| HP:0033094 | Increased urine glutamate level | |
| Occasional (29-5%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0000787 | Nephrolithiasis | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0100753 | Schizophrenia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21123949[PMID]_31878022[PMID]_37764806[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2195
- This record as JSON: /data/d/2195.json