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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Argininosuccinate lyase activity low in fibroblasts or erythrocytes (Lab: pathology: biopsies & morphology) #9218

Closed pnrobinson closed 6 months ago

pnrobinson commented 1 year ago

New term request Argininosuccinate lyase activity low in fibroblasts or erythrocytes (elthat_110106022534): ASL; RBCs, red blood cells UMLS: 1697789

pnrobinson commented 6 months ago

@MickeySegal I do not think this is a current clinical assay -- in this publication they had to do research-grade investigations to measure this activity https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7428858/

I usually search for evidence of clinical assays by searching as follows: "Argininosuccinate lyase normal range"; in this case, the only result is "The typical plasma levels of argininosuccinic acid are between 5 and 110 µmol/L " but there is nothing for the enzyme. This would thus not add to the utlity of the annotations because in a clinical context, nobody could measure the enzyme activity and nobody would even try unless the diagnosis was already very probable.