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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: 2,8-dihydroxyadenine high in urine on HPLC (Lab: urine tests) #8857

Closed pnrobinson closed 2 months ago

pnrobinson commented 1 year ago

New term request 2,8-dihydroxyadenine high in urine on HPLC (segal_120706192157): DHA

pnrobinson commented 5 months ago

@MickeySegal @MickeySegal

According to HMDB this is an insoluble metabolite that forms stones. Because it is insoluble, I am wondering how it is possible to measure its level in urine and if the phenotypic feature is actually 2,8-dihydroxyadenine renal calculus or something similar?

MickeySegal commented 5 months ago

There is some solubility, and one can measure soluble DHA or observe crystals.
https://www.ncbi.nlm.nih.gov/books/NBK100238/ "Surveillance: Measurement of eGFR and urinary DHA excretion (or urine microscopy for assessment of DHA crystalluria) every 6-12 months; routine follow up to facilitate adherence to pharmacologic treatment at least annually... Urine microscopy for assessment of DHA crystalluria if direct DHA measurements not available... Urinary DHA measurements. The authors' group has recently developed a urinary DHA assay using ultra-high-performance liquid chromatography – tandem mass spectrometry (UPLC-MS/MS) [Thorsteinsdottir et al 2016], which is expected to facilitate both the clinical diagnosis and monitoring of pharmacotherapy of individuals with APRT deficiency [Edvardsson et al 2018]. Further clinical studies to examine the sensitivity and specificity of the assay are currently under way."

pnrobinson commented 2 months ago

@MickeySegal Adding new term: