Peter Robinson

Can this be made a low tissue term? Reduced leukocyte beta-glucuronidase activity HP:0034859

@MickeySegal Can this be made a low tissue term? We already have Reduced leukocyte beta-glucuronidase activity HP:0034859

@MickeySegal Reduced tissue beta-glucuronidase activity HP:0034859 def: Concentration or activity of beta-glucuronidase (EC 3.2.1.31) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured...

@MickeySegal is this the enzyme coded by HSD3B7? What is the context?

@MickeySegal Adding new term: - ID: HP:6000825 - label: Reduced C27 3beta-HSD activity in cultured fibroblasts - parents: [Abnormal enzyme activity in cultured fibroblasts (HP:4000195)](https://hpo.jax.org/app/browse/term/HP:4000195) - pmid: PMID:11067870 - def:...

Reduced beta-mannosidase activity in cultured fibroblasts

@MickeySegal Reduced tissue beta-mannosidase activity HP:4000205 def:Concentration or activity of beta-mannosidase (EC 3.2.1.25) below the lower limit of normal. Beta-mannosidas enzyme can be measured in multiple tissues including leukocytes and...

@MickeySegal Not an expert, but isn't the enzyme activity measure from both the isoenyzmes? See https://www.cellbiolabs.com/sites/default/files/MET-5095-beta-hexosaminidase-activity-assay-kit.pdf

The HEXA gene encodes the alpha subunit of hexosaminidase A ([EC 3.2.1.52](https://enzyme.expasy.org/EC/3.2.1.52)), a lysosomal enzyme involved in the breakdown of gangliosides. There are 2 isoenzymes of hexosaminidase: Hex-A and Hex-B...

@MickeySegal HP:0025754 Reduced beta-hexosaminidase A activity Also, the existing term "Reduced beta-hexosaminidase activity" was referring to the "B" form, so I updated the label.