High incidence of partial biotinidase deficiency cases in newborns of Greek origin

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

“…17 Only 7% of these (~1:50 000) neonates had a profound deficiency, compared with 1:137 401 reported by Wolf. The large difference between the worldwide survey and the incidence found in our study and others 16,[20][21][22][23][24][25][26][27][28] is likely due to considerable variation in the occurrence of this disorder across countries. Therefore, it is important for each country to study the incidence of biotinidase deficiency.…”

“…17 More recent publications, however, indicate that the incidence of biotinidase deficiency ranges from 1:4500 to 1:62 500 in countries that screen for this disorder (eg, Brazil, the USA, Belgium, Germany and Greece). 16,[20][21][22][23][24][25][26][27][28] Our study shows that, in the Netherlands, 1 in 6100 to 1 in 8200 neonates had partial or profound biotinidase deficiency. 17 Only 7% of these (~1:50 000) neonates had a profound deficiency, compared with 1:137 401 reported by Wolf.…”

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

“…The commonest neurological, cutaneous and biochemical manifestations were: seizure (9/10); alopecia (9/10); organic aciduria (4/6). This observation has been seen previously in various ethnic populations and in case reports from India [8][9][10][11][12]. Iranian case series found that seizures (13/16), alopecia (8/16), abnormal auditory brainstem response (4/16), abnormal lactate and ammonia (8/16) were the common manifestations [13].…”

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

“…Thus, the incidence found in the current study was higher than that observed worldwide and in many countries. Nevertheless, pilot newborn screening Wolf et al (2005) studies in isolated regions or selected groups have disclosed higher incidences (1:4,500 to 1:14,000) than that reported in the present research (Thodi et al 2013;Dunkel et al 1989;Lawler et al 1992;Sarafoglou et al 2009). In Brazil, the available prevalence rates are divergent.…”