Adenylosuccinate Lyase Deficiency
| Disease Aliases (10) | Adenylosuccinase deficiency Adenylosuccinate deficiency Adsl deficiency Adsld Asase - adenylosuccinate lyase deficiency Deficiency of adenylosuccinate lyase Inborn (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity disorder Inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity Rare inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity Succinyladenosinuria |
Associated Genes (0) | |||||||
| Cross-references of Adenylosuccinate lyase deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |