Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Mol Genet Metab
; 106(4): 485-7, 2012 Aug.
Article
in En
| MEDLINE
| ID: mdl-22698809
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hispanic or Latino
/
Biotinidase Deficiency
Type of study:
Incidence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Country/Region as subject:
America do norte
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2012
Document type:
Article
Affiliation country: