Biotinidase Deficiency: New Directions and Practical Concerns.

Abstract

Biotinidase deficiency is a readily treatable inherited disorder. Discovery of the enzyme deficiency as the cause for late-onset multiple carboxylase deficiency initially seemed to answer almost all of the questions about the disorder. However, as is the case for most inborn errors of metabolism, finding the enzyme that causes the disorder, cloning the gene, and determining the spectrum of clinical features of the disease only opens a Pandora's box. As researchers have found, there are still many important and interesting questions about this disorder that must be addressed and answered. However, when compared with other inherited metabolic diseases, biotinidase deficiency is still one of the most readily treatable. If a child must have an inborn error of metabolism, let it be biotinidase deficiency and let it be identified by newborn screening.