Biomarkers for urea cycle disorders (Homo sapiens)
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Description
Urea cycle disorders are caused by enzyme defects in the Urea cycle (WP4571). The diseases are characterised by hyperammonemia, respiratory alkalosis and encephalopathy and the severity of the disease depends on the severity of the defect and the place of the defect in the cycle. Severe forms usually have an onset in infancy, while mild forms can also present in adulthood.
The diagnosis of Urea cycle disorders is based on altered concentrations of different metabolic biochemical markers. Some of these markers are metabolites in Urea cycle, but there are also several other markers, that are either indirectly or not related to the Urea cycle. All metabolic markers used for the diagnosis of at least one Urea cycle disorder and their relations are visualized in this pathway. Biochemical markers derived from http://www.iembase.org/, for all diseases pictured in WP4571.
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Ontology Terms
Saving...Bibliography
- Humm A, Fritsche E, Steinbacher S, Huber R; ''Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis.''; EMBO J, 1997 PubMed Europe PMC Scholia
- Tapiero H, Mathé G, Couvreur P, Tew KD; ''II. Glutamine and glutamate.''; Biomed Pharmacother, 2002 PubMed Europe PMC Scholia
- Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML; ''Urea Cycle Disorders Overview''; , 1993 PubMed Europe PMC Scholia
History
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External references
DataNodes
| View all... |
| Name | Type | Database reference | Comment |
|---|---|---|---|
| (S)-Beta-aminoisobutyrate | Metabolite | CHEBI:57731 (ChEBI)  |
|
| ALT | Protein | P24298 (Uniprot-TrEMBL) | aka Alanine aminotransferase |
| ARG1 | Protein | P05089 (Uniprot-TrEMBL) | |
| ASL | Protein | P04424 (Uniprot-TrEMBL) | |
| ASS1 | Protein | P00966 (Uniprot-TrEMBL) | |
| AST | Protein | P17174 (Uniprot-TrEMBL) | aka Aspartate aminotransferase |
| Alanine and aspartate metabolism | Pathway | WP106 (WikiPathways) | |
| Amino Acid metabolism | Pathway | WP3925 (WikiPathways) | |
| Arginine | Metabolite | CHEBI:32682 (ChEBI) | (1+) charge needed for conversion to take place |
| Argininosuccinate | Metabolite | CHEBI:57472 (ChEBI) | (1-) charge needed for conversion to take place |
| Aspartate | Metabolite | CHEBI:29991 (ChEBI) | (1-) charge needed for conversion to take place |
| Beta-alanine | Metabolite | CHEBI:57966 (ChEBI) | Zwitterion needed for conversion to take place |
| Biochemical Pathways Part I | Pathway | WP3604 (WikiPathways) | |
| Blood Clotting Cascade | Pathway | WP272 (WikiPathways) | |
| Carbamoyl-phosphate | Metabolite | CHEBI:58228 (ChEBI) | (2-) charge needed for conversion to take place |
| Citrulline | Metabolite | CHEBI:57743 (ChEBI) | Zwitterion needed for conversion to take place |
| Creatine | Metabolite | CHEBI:57947 (ChEBI) | Zwitterion needed for conversion to take place |
| Factor VII | Protein | P08709 (Uniprot-TrEMBL) | |
| Factor X | Protein | P00742 (Uniprot-TrEMBL) | |
| Fumarate | Metabolite | CHEBI:29806 (ChEBI) | (2-) charge needed for conversion to take place |
| GAMT | Protein | Q14353 (Uniprot-TrEMBL) | |
| GATM | Protein | P50440 (Uniprot-TrEMBL) | |
| GLS2 | Protein | Q9UI32 (Uniprot-TrEMBL) | |
| Galactose | Metabolite | HMDB0000143 (HMDB) | |
| Glutamate | Metabolite | CHEBI:29985 (ChEBI) | (1-) charge needed for conversion to take place |
| Glutamine | Metabolite | CHEBI:58359 (ChEBI) | Zwitterion needed for conversion to take place |
| Guanidinoacetate | Metabolite | CHEBI:57742 (ChEBI) | Zwitterion needed for conversion to take place |
| Homocitrulline | Metabolite | CHEBI:58148 (ChEBI) | Zwitterion needed for conversion to take place |
| Methionine | Metabolite | HMDB0000696 (HMDB) | |
| N-acetylglutamate | Metabolite | CHEBI:44337 (ChEBI) | (2-) charge needed for conversion to take place |
| NAGS | Protein | Q8N159 (Uniprot-TrEMBL) | |
| NH4+ | Metabolite | CHEBI:28938 (ChEBI) | |
| OTC | Protein | P00480 (Uniprot-TrEMBL) | |
| Ornithine | Metabolite | CHEBI:46911 (ChEBI) | (1) charge needed for conversion to take place |
| Orotate | Metabolite | HMDB0000226 (HMDB) | |
| Pyrimidine metabolism | Pathway | WP4225 (WikiPathways) | |
| Threonine | Metabolite | HMDB0000167 (HMDB) | |
| Tyrosine | Metabolite | HMDB0000158 (HMDB) | |
| Urea cycle | Pathway | WP4571 (WikiPathways) | |
| Urea | Metabolite | CHEBI:16199 (ChEBI) |
Annotated Interactions
| View all... |
| Source | Target | Type | Database reference | Comment |
|---|---|---|---|---|
| Arginine | Guanidinoacetate | mim-conversion | 13202 (Rhea) | |
| Arginine | Ornithine | mim-conversion | 20570 (Rhea) | |
| Argininosuccinate | Arginine | mim-conversion | 24021 (Rhea) | |
| Aspartate | mim-conversion | 10933 (Rhea) | ||
| Carbamoyl-phosphate | Citrulline | mim-conversion | 19514 (Rhea) | |
| Carbamoyl-phosphate | Homocitrulline | mim-conversion | 17122 (Rhea) | |
| Citrulline | Argininosuccinate | mim-conversion | 10933 (Rhea) | |
| Fumarate | mim-conversion | 24021 (Rhea) | ||
| Glutamate | N-acetylglutamate | mim-conversion | 24293 (Rhea) | |
| Glutamine | Glutamate | mim-conversion | 15890 (Rhea) | |
| Guanidinoacetate | Creatine | mim-conversion | 10657 (Rhea) | |
| NH4+ | Carbamoyl-phosphate | mim-conversion | 18030 (Rhea) | |
| NH4+ | mim-conversion | 15890 (Rhea) | ||
| Ornithine | mim-conversion | 19514 (Rhea) | ||
| mim-conversion | 20570 (Rhea) |
