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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: 4,5-dihydrohexanoic acid high in urine (Lab: chemistry: organic acids) #8625

Closed pnrobinson closed 2 months ago

pnrobinson commented 1 year ago

New term request 4,5-dihydrohexanoic acid high in urine (segal_040303233833):

pnrobinson commented 7 months ago

@MickeySegal I am having trouble finding information about this compound. Can you specify?

MickeySegal commented 7 months ago

https://pubmed.ncbi.nlm.nih.gov/12829002/ "4,5-Dihydrohexanoate, 2-deoxytetronate and 3-deoxytetronate were also 1.7-2.7-fold higher."

pnrobinson commented 3 months ago

@MickeySegal I am unable to find this designation in CHEBI or other databases of biochemicals and am wondering if it is imprecise or wrong.

MickeySegal commented 3 months ago

You are right. Two sources had the same typo. The correct name is 4,5-dihydroxyhexanoic acid

https://hmdb.ca/metabolites/HMDB0240745 4,5-dihydroxyhexanoic acid or DHHA is a water-soluble organic acid. It probably arises from the reaction of succinic semialdehyde with an intermediate in the pyruvate dehydrogenase pathway. DHHA is found in the urine and appears to be a marker for Succinic semialdehyde dehydrogenase (SSADH) deficiency (PMID: 3126356 ).

pnrobinson commented 2 months ago

@MickeySegal

Adding new term: