Abstract
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes. Therefore, the disorder readily meets the major criteria for newborn screening. Our laboratory has been instrumental in developing, piloting and establishing newborn screening for the disorder in the United States and in many countries. This review discusses some of the “behind-the-scenes” aspects of how we spread the word about the disorder and what we learned from over 30 years of newborn screening. We also discuss some of the controversies and issues about biotinidase deficiency that remain to be addressed. Based on the successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening, this is one of the best, if not the best, disorder for which to perform newborn screening. In summary, “If an individual has to have an inherited metabolic disorder, biotinidase deficiency is the one to have.”
Highlights
I was invited by Dr Harvey Levy, the editor of this Special Issue about the history of newborn screening, to write a personalized story about the discovery, implementation and outcomes of the newborn screening of biotinidase deficiency (OMIM #253260)
We discovered that biotinidase deficiency is the primary defect for most individuals with late-onset multiple carboxylase deficiency [2,3]
We have shown that most children with partial biotinidase deficiency have one specific mutation that reduces enzyme activity by about 50% [10]
Summary
I was invited by Dr Harvey Levy, the editor of this Special Issue about the history of newborn screening, to write a personalized story about the discovery, implementation and outcomes of the newborn screening of biotinidase deficiency (OMIM #253260). The article deals predominantly with the story of the piloting and mandating of newborn screening for biotinidase deficiency in the Commonwealth of Virginia, which has the first newborn screening program for biotinidase deficiency in the world. Piloted the first newborn screening for biotinidase deficiency in Virginia [6]. We characterized over 150 mutations causing profound biotinidase deficiency among newborns identified by screening in the United States [9]. We have recently demonstrated the successful long-term outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening [16]. I will present a series of vignettes describing our advances in our understanding of biotinidase deficiency through newborn screening, some of the controversies about newborn screening for the disorder, and what we can do to help resolve these issues
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