Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

“…Although screening has also been advocated for partial deficiency, 12 few individuals with a partial deficiency have been known to develop symptoms. Not only were the symptoms in these cases, such as skin-lesions and hair loss, generally mild and easily treated with biotin, 6,11,13,14 they usually presented after an additional trigger such as infection. 6,11 Biotinidase deficiency was included in the Dutch neonatal screening programme in 2007.…”

“…To prevent these symptoms, timely initiation of treatment with oral free biotin is essential, 6 which explains why various countries have included biotinidase deficiency in their neonatal screening programmes. 11 Only patients with a profound biotinidase deficiency appear to be at risk of developing severe and irreversible symptoms, and should therefore be the main target of screening. Although screening has also been advocated for partial deficiency, 12 few individuals with a partial deficiency have been known to develop symptoms.…”

Clinical utility gene card for: Biotinidase deficiency—update 2015

“…This question coincides with the debate over the usefulness of programmes of newborn screening of biotinidase deficiency based on measurement of biotinidase enzyme activity. One can distinguish between two categories of countries: those which chose to develop a systematic newborn screening programme for early diagnosis of biotinidase deficiency, such as the USA, 29 some European countries, 16 Turkey 30 or Brazil, 31 and those which did not choose such an option and preferred to rely on clinical diagnosis to identify affected individuals. From an economical perspective, the choice of one option over the other is guided by the balance between the overall cost of a massive screening involving thousands of newborns per year and the cost of more complex medical healthcare regarding much fewer infants clinically diagnosed with biotinidase deficiency.…”

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

“…However, most of these reports only described children and young adolescents. When we published the successful experience of 25 years of newborn screening in Michigan, it became obvious that only the younger individuals (mean age of eight years) continued to be followed in genetics/metabolic clinics [16]. Therefore, I proceeded to locate older adolescents, over 15 years old, and adults to determine how they have done over the years.…”

“…We have been involved with establishing the American College of Medical Genetics guidelines for the newborn screening of biotinidase deficiency [15]. We have recently demonstrated the successful long-term outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening [16].…”