Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
We report population findings from newborn screening for biotinidase deficiency in California, representing over 2,000,000 newborns. The incidence of profound deficiency was 1/73,629, higher than in other reported populations. Out of 28 patients with profound biotinidase deficiency, 19 were of Hispanic descent, suggesting an increased frequency among this group. Of the 28 patients, 23 underwent mutation analysis of the BTD gene, with one common mutation, 528G>T, found in 43.3% of Hispanic alleles tested.
Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Tina M
TM
Cowan
Niloufar Neely
NN
Kazerouni
Nilesh
N
Dharajiya
Fred
F
Lorey
Marie
M
Roberson
Christina
C
Hodgkinson
Iris
I
Schrijver
D043523:Biotinidase / Q000235:genetics; D028921:Biotinidase Deficiency / Q000201:enzymology / Q000453:epidemiology*; D002140:California / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D006630:Hispanic or Latino / Q000706:statistics & numerical data*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening
D043523:Biotinidase