IEMbase 0049: SLC1A1-related dicarboxylic aminoaciduria
Scope
| Field | Value |
|---|---|
| IEMbase ID | 49 |
| Nosology | 1.11.07.01 |
| Gene | SLC1A1 |
| External IDs | OMIM:222730 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive SLC1A1-related dicarboxylic aminoaciduria. The biochemical signature is increased urinary aspartic acid and markedly increased urinary glutamic acid across all recorded ages. Plasma glucose is listed as low-to-normal only in the neonatal and infancy columns.
Clinical features are possible rather than defining: psychotic behavior, intellectual disability, and urolithiasis. IEMbase lists no treatments.
DisMech phenotype coverage
There is no local DisMech entry for SLC1A1-related dicarboxylic aminoaciduria. The local cystinuria and Hartnup entries are nearby amino-acid transport disorders, but neither is a valid target.
Cystinuria.yaml models cystine and dibasic amino acid transport involving
SLC3A1/SLC7A9. Hartnup_Disease.yaml models neutral amino acid transport
involving SLC6A19/B0AT1. IEMbase ID 49 is a dicarboxylic aminoaciduria with
glutamate/aspartate urinary loss and SLC1A1.
Concordance and completeness
Judgement: true unmapped record. No current local disorder captures the SLC1A1 dicarboxylic amino-acid transporter phenotype.
The potential mistake to avoid is classifying this by the broad aminoaciduria label alone. The class of amino acid substrate is the key discriminator: dicarboxylic amino acids for SLC1A1, neutral amino acids for Hartnup, and cystine/dibasic amino acids for cystinuria.
Curation actions
- Keep the record unmapped.
- Do not map to Hartnup disease or cystinuria.
- If curated later, use SLC1A1, urinary glutamic/aspartic acid excess, and the possible neuropsychiatric/urolithiasis features as the starting scope.