Biotinidase deficiency

Brief review of the biochemistry, clinical features and enzymatic screening (newborn screening).

Category:

Science & Technology

Tags:

• Biotinidase deficiency
• Genetics
• Florida
• R.C. Philips Unit

[willicx]

We know that adequate biotin supplementation essentially prevents the clinical problems associated with biotinidase deficiency. In individuals with biotinidase deficiency if the biocytin accumulated we might see some problems but we do not. My guess is that the biocytin is degraded by the cytoplasmic ubiquitin-proteasome system, and that it does not accumulate to any significant degree but that is only speculation on my part.

[swirlystrawberri]

maybe next time make a little easier to understand? but thanks!! :)

[willicx]

@swirlystrawberri

Hi. Thanks for the feedback. Good point. We will probably do an update soon, or we may add a level 1 video that is less complicated.

Charlie

[FredriksTube]

When adding biotin supplementation to the diet in this disorder, can the accumulation of biocytin cause any pathology? How is it eliminated? Thank you for your time, great presentations!