Biomarkers for urea cycle disorders (WP4583)

Homo sapiens

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Urea cycle disorders are caused by enzyme or transporter defects in the Urea cycle (WP4571). These 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 the 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

Authors

Irene Hemel , Denise Slenter , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

carbamoyl phosphate synthetase I deficiency disease hyperargininemia ornithine carbamoyltransferase deficiency urea cycle disorder citrullinemia argininosuccinic aciduria

Pathway Ontology

urea cycle pathway inborn error of urea cycle pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Methionine Metabolite hmdb:HMDB0000696
Citrulline Metabolite chebi:57743 Zwitterion needed for conversion to take place
Orotate Metabolite hmdb:HMDB0000226
Tyrosine Metabolite hmdb:HMDB0000158
Homocitrulline Metabolite chebi:58148 Zwitterion needed for conversion to take place
Galactose Metabolite hmdb:HMDB0000143
Argininosuccinate Metabolite chebi:57472 (1-) charge needed for conversion to take place
Ornithine Metabolite chebi:46911 (1) charge needed for conversion to take place
Urea Metabolite chebi:16199
Creatine Metabolite chebi:57947 Zwitterion needed for conversion to take place
Carbamoyl-phosphate Metabolite chebi:58228 (2-) charge needed for conversion to take place
NH4+ Metabolite chebi:28938
Guanidinoacetate Metabolite chebi:57742 Zwitterion needed for conversion to take place
Glutamine Metabolite chebi:58359 Zwitterion needed for conversion to take place
Threonine Metabolite hmdb:HMDB0000167
Arginine Metabolite chebi:32682 (1+) charge needed for conversion to take place
Glutamate Metabolite chebi:29985 (1-) charge needed for conversion to take place
Fumarate Metabolite chebi:29806 (2-) charge needed for conversion to take place
N-acetylglutamate Metabolite chebi:44337 (2-) charge needed for conversion to take place
Aspartate Metabolite chebi:29991 (1-) charge needed for conversion to take place
(S)-Beta-aminoisobutyrate Metabolite chebi:57731 aka (R)-3-amino-2-methylpropanoate
Zwitterion needed for conversion to take place
Beta-alanine Metabolite chebi:57966 Zwitterion needed for conversion to take place
GATM Protein uniprot:P50440
ALT Protein uniprot:P24298 aka Alanine aminotransferase
Factor X Protein uniprot:P00742
GAMT Protein uniprot:Q14353
AST Protein uniprot:P17174 aka Aspartate aminotransferase
Factor VII Protein uniprot:P08709
GLS2 Protein uniprot:Q9UI32
ARG1 Protein uniprot:P05089
ASS1 Protein uniprot:P00966
ASL Protein uniprot:P04424
NAGS Protein uniprot:Q8N159
OTC Protein uniprot:P00480

References

  1. Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. Humm A, Fritsche E, Steinbacher S, Huber R. EMBO J. 1997 Jun 16;16(12):3373–85. PubMed Europe PMC Scholia
  2. II. Glutamine and glutamate. Tapiero H, Mathé G, Couvreur P, Tew KD. Biomed Pharmacother. 2002 Nov;56(9):446–57. PubMed Europe PMC Scholia
  3. Urea Cycle Disorders Overview. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2003. PubMed Europe PMC Scholia