argininosuccinic aciduria
Information
- Disease name
- argininosuccinic aciduria
- Disease ID
- DOID:14755
- Description
- "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine." [url:http\://en.wikipedia.org/wiki/Argininosuccinic_aciduria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03064048 | Completed | N/A | Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD | September 15, 2017 | January 31, 2023 |
| NCT00345605 | Completed | Phase 2 | Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder | February 2008 | November 2012 |
| NCT02252770 | Completed | N/A | Nitric Oxide Supplementation in Argininosuccinic Aciduria | September 2014 | May 2018 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT04612764 | Recruiting | Liver Disease in Urea Cycle Disorders | November 4, 2021 | December 31, 2024 | |
| NCT04908319 | Recruiting | Hepatic Histopathology in Urea Cycle Disorders | February 24, 2022 | June 30, 2025 | |
| NCT05910151 | Recruiting | Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan | October 3, 2022 | December 31, 2024 | |
| NCT01421888 | Terminated | The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity | August 8, 2011 | April 17, 2013 |
- Disase is a (Disease Ontology)
- DOID:9252
- Cross Reference ID (Disease Ontology)
- GARD:5843
- Cross Reference ID (Disease Ontology)
- MESH:D056807
- Cross Reference ID (Disease Ontology)
- MIM:207900
- Cross Reference ID (Disease Ontology)
- NCI:C84569
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:41013004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268547
- Exact Synonym (Disease Ontology)
- Argininosuccinate lyase deficiency
- Exact Synonym (Disease Ontology)
- argininosuccinic acidemia
- Exact Synonym (Disease Ontology)
- arginosuccinase deficiency
- Exact Synonym (Disease Ontology)
- deficiency of argininosuccinate lyase
- OrphaNumber from OrphaNet (Orphanet)
- 23
- MeSH unique ID (MeSH (Medical Subject Headings))
- D056807