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Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Mar; Vol. 17 (3), pp. 205-9. Date of Electronic Publication: 2014 Aug 21. - Publication Year :
- 2015
-
Abstract
- Purpose: Biotinidase deficiency, if untreated, usually results in neurological and cutaneous symptoms. Biotin supplementation markedly improves and likely prevents symptoms in those treated early. All states in the United States and many countries perform newborn screening for biotinidase deficiency. However, there are few studies about the outcomes of the individuals identified by newborn screening.<br />Methods: We report the outcomes of 142 children with biotinidase deficiency identified by newborn screening in Michigan over a 25-year period and followed in our clinic; 22 had profound deficiency and 120 had partial deficiency.<br />Results: Individuals with profound biotinidase and partial deficiency identified by newborn screening were started on biotin therapy soon after birth. With good compliance, these children appeared to have normal physical and cognitive development. Although some children exhibited mild clinical problems, these are unlikely attributable to the disorder. Biotin therapy appears to prevent the development of neurological and cutaneous problems in our population.<br />Conclusion: Individuals with biotinidase deficiency ascertained by newborn screening and treated since birth appeared to exhibit normal physical and cognitive development. If an individual does develop symptoms, after compliance and dosage issues are excluded, then other causes must be considered.Genet Med 17 3, 205-209.
- Subjects :
- Biotinidase genetics
Biotinidase Deficiency pathology
DNA Mutational Analysis methods
Humans
Infant, Newborn
Michigan
Retrospective Studies
Treatment Outcome
Biotin therapeutic use
Biotinidase Deficiency diagnosis
Biotinidase Deficiency diet therapy
Neonatal Screening methods
Vitamin B Complex therapeutic use
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 17
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 25144890
- Full Text :
- https://doi.org/10.1038/gim.2014.104