Cayman’s Biotinidase Activity MaxSpec® Assay Kit includes the necessary reagents to quantify biotinidase enzyme activity in dried blood spots. The Biotinidase Activity MaxSpec® Assay Substrate has been designed to function as a highly selective substrate for biotinidase

Biotinidase Activity MaxSpec® Assay Kit – 1 ea

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Cayman
Storage:
-20

Biotinidase is a peptidyl hydrolase that cleaves biocytin and biotinylated peptides in vivo to generate free biotin, an essential coenzyme for certain carboxylases involved in fatty acid, amino acid, and glucose metabolism.{32218,42936} Early-onset biotinidase deficiency is due to deletion, insertion, substitution, or missense mutations in the biotinidase gene, BTD, that affect the activity of multiple carboxylases. This profound biotinidase deficiency results in seizures, ataxia, sensorineural hearing loss or vision loss, eczema, and respiratory disruptions without treatment. Partial biotinidase deficiency is due to a substitution mutation in the BTD gene resulting in a 70-90% reduction in biotinidase activity leading to symptom manifestation that may not occur until adolescence and occurs only under biological stress. Many symptoms resolve with treatment, but retinal degeneration, sensorineural hearing loss, and developmental delays cannot be reversed. Early detection of biotinidase deficiency is imperative to avoid permanent damage.  

 

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Description

Cayman’s Biotinidase Activity MaxSpec® Assay Kit includes the necessary reagents to quantify biotinidase enzyme activity in dried blood spots. The Biotinidase Activity MaxSpec® Assay Substrate has been designed to function as a highly selective substrate for biotinidase, which hydrolyzes the biotin moiety resulting in the formation of the Biotinidase Activity Assay Product. Using the Biotinidase Activity MaxSpec® Assay Kit, biotinidase activity may be quantified directly by LC-MS in combination with the Biotinidase Activity MaxSpec® Assay Internal Standard. ,

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Application|Mass Spectrometry||Product Type|Assay Kits|MaxSpec® Kits||Research Area|Endocrinology & Metabolism|Carbohydrate Metabolism

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