Gene:
ASL
argininosuccinate lyase

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB gathers information regarding PGx on FDA drug labels from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels", and from FDA-approved FDA and EMA-approved (European Medicines Agency) EMA labels brought to our attention. Excerpts from the label and downloadable highlighted label PDFs are manually curated by PharmGKB.

Please note that some drugs may have been removed from or added to the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" without our knowledge. We periodically check the table for additions to this table and update PharmGKB accordingly.

There is currently no such list for European drug labels - we are working with the EMA to establish a list of European Public Assessment Reports (EPAR)s that contain PGx information. We are constructing this list by initially searching for drugs for which we have PGx-containing FDA drug labels - of these 44 EMA EPARs were identified and are being curated for pgx information.

We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA or other Medicine Agencies around the world - please contact feedback.


last updated 12/13/2013

FDA Label for phenylacetic acid, sodium benzoate and ARG1, ASL, ASS1, CPS1, NAGS, OTC

Informative PGx

Summary

Sodium Phenylacetate and Sodium Benzoate provides an alternate vehicle to urea for waste nitrogen excretion in patients with urea cycle disorders. Urea cycle disorders may be caused by mutations in the genes NAGS, CPS1, OTC, ASS1, ASL and ARG1. This drug-biomarker pair was previously in the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" but has subsequently been removed.

Annotation

Sodium Phenylacetate and Sodium Benzoate provides an alternate vehicle to urea for waste nitrogen excretion in patients with urea cycle disorders. Urea cycle disorders may be caused by mutations in the genes NAGS, CPS1, OTC, ASS1, ASL and ARG1. This drug-biomarker pair was previously in the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" but has subsequently been removed.

Excerpt from the Sodium Phenylacetate and Sodium Benzoate (Ammonul) drug label:

AMMONUL is a nitrogen binding agent indicated as adjunctive therapy for the treatment of acute hyperammonemia and associated encephalopathy in patients with deficiencies in enzymes of the urea cycle.

Urea cycle disorders can result from decreased activity of any of the following enzymes: N-acetylglutamate synthetase (NAGS), carbamyl phosphate synthetase (CPS), argininosuccinate synthetase (ASS), ornithine transcarbamylase (OTC), argininosuccinate lyase (ASL), or arginase (ARG).

Sodium phenylacetate and sodium benzoate are metabolically active compounds that can serve as alternatives to urea for the excretion of waste nitrogen. Figure 2 is a schematic illustrating how the components of AMMONUL, phenylacetate and benzoate, provide an alternative pathway for nitrogen disposal in patients without a fully functioning urea cycle.

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the sodium Phenylacetate and Sodium Benzoate (Ammonul) drug label.

*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • ARG1
    • Clinical pharmacology section, other
    • source: FDA Label
  • ASL
    • Clinical pharmacology section, other
    • source: FDA Label
  • ASS1
    • Clinical pharmacology section, other
    • source: FDA Label
  • CPS1
    • Clinical pharmacology section, other
    • source: FDA Label
  • NAGS
    • Clinical pharmacology section, other
    • source: FDA Label
  • OTC
    • Clinical pharmacology section, other
    • source: FDA Label

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA25046

Details

Cytogenetic Location: chr7 : q11.21 - q11.21
GP mRNA Boundary: chr7 : 65540776 - 65558330
GP Gene Boundary: chr7 : 65530776 - 65561330
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Ornithine metabolism - (Reactome via Pathway Interaction Database)
  2. Urea synthesis - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

No related diseases are available

Publications related to ASL: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Human mutation. 2009. Mitchell Sabrina, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. American journal of human genetics. 2006. Merla Giuseppe, et al. PubMed

LinkOuts

UniProtKB:
ARLY_HUMAN (P04424)
Ensembl:
ENSG00000126522
GenAtlas:
ASL
GeneCard:
ASL
MutDB:
ASL
ALFRED:
LO093529C
HuGE:
ASL
Comparative Toxicogenomics Database:
435
ModBase:
P04424
HumanCyc Gene:
HS10034
HGNC:
746

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