| H00911 | |
| H number | H00911 |
| Name | Dicarboxylic aminoaciduria |
| Description | Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. DA is generally considered to be a benign disorder, but cases with mental retardation have been reported as well. Homozygous loss-of-function mutations in SLC1A1 could be associated with DA. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | SLC1A1 [HSA:6505] [KO:K05612] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C60.Y MeSH: C536171 OMIM: 222730 |
| Reference | PMID:21123949 AUTHORS Bailey CG, Ryan RM, Thoeng AD, Ng C, King K, Vanslambrouck JM, Auray-Blais C, Vandenberg RJ, Broer S, Rasko JE TITLE Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. JOURNAL J Clin Invest 121:446-53 (2011) DOI:10.1172/JCI44474 PMID:18195088 AUTHORS Broer S TITLE Amino acid transport across mammalian intestinal and renal epithelia. JOURNAL Physiol Rev 88:249-86 (2008) DOI:10.1152/physrev.00018.2006 |