Outcomes of Individuals with Profound and Partial Biotinidase Deficiency Ascertained by Newborn Screening in Michigan over 25 Years

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2014 Aug 22

PMID 25144890

Citations 16

Authors

Allison M Jay

Robert L Conway

Gerald L Feldman

Fatimah Nahhas

Linda Spencer

Barry Wolf

Affiliations

Soon will be listed here.

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.

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.

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.

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.

Citing Articles

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Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.

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References

Pispa J . Animal biotinidase. Ann Med Exp Biol Fenn. 1965; 43:Suppl 5:1-39. View

Nelson H, Nygren P, Walker M, Panoscha R . Screening for speech and language delay in preschool children: systematic evidence review for the US Preventive Services Task Force. Pediatrics. 2006; 117(2):e298-319. DOI: 10.1542/peds.2005-1467. View

Wolf B, Heard G . Screening for biotinidase deficiency in newborns: worldwide experience. Pediatrics. 1990; 85(4):512-7. View

Wolf B . Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab. 2010; 100(1):6-13. DOI: 10.1016/j.ymgme.2010.01.003. View

Wolf B, Grier R, Allen R, Goodman S, Kien C . Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta. 1983; 131(3):273-81. DOI: 10.1016/0009-8981(83)90096-7. View

Moslinger D, Muhl A, Suormala T, Baumgartner R, Stockler-Ipsiroglu S . Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr. 2003; 162 Suppl 1:S46-9. DOI: 10.1007/s00431-003-1351-3. View

Pomponio R, HYMES J, Reynolds T, Meyers G, Fleischhauer K, Buck G . Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res. 1997; 42(6):840-8. DOI: 10.1203/00006450-199712000-00020. View

Vitale S, Sperduto R, Ferris 3rd F . Increased prevalence of myopia in the United States between 1971-1972 and 1999-2004. Arch Ophthalmol. 2009; 127(12):1632-9. DOI: 10.1001/archophthalmol.2009.303. View

Wolf B . Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis. 1991; 14(6):923-7. DOI: 10.1007/BF01800475. View

10.

Wolf B . Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. 2012; 14(6):565-75. DOI: 10.1038/gim.2011.6. View

11.

Wolf B, Heard G, Jefferson L, Proud V, Nance W, Weissbecker K . Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. N Engl J Med. 1985; 313(1):16-9. DOI: 10.1056/NEJM198507043130104. View

12.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G . Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Mol Genet Metab. 2014; 112(3):242-6. DOI: 10.1016/j.ymgme.2014.04.002. View

13.

Heard G, Secor McVoy J, Wolf B . A screening method for biotinidase deficiency in newborns. Clin Chem. 1984; 30(1):125-7. View

14.

Flohr C, Mann J . New insights into the epidemiology of childhood atopic dermatitis. Allergy. 2014; 69(1):3-16. DOI: 10.1111/all.12270. View

15.

Swango K, Demirkol M, Huner G, Pronicka E, Sykut-Cegielska J, Schulze A . Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet. 1998; 102(5):571-5. DOI: 10.1007/s004390050742. View

16.

Norrgard K, Pomponio R, HYMES J, Wolf B . Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. Pediatr Res. 1999; 46(1):20-7. DOI: 10.1203/00006450-199907000-00004. View

17.

Moslinger D, Stockler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Muhl A, Seidl R . Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Eur J Pediatr. 2001; 160(5):277-82. DOI: 10.1007/s004310100740. View

18.

Wolf B, Feldman G . The biotin-dependent carboxylase deficiencies. Am J Hum Genet. 1982; 34(5):699-716. PMC: 1685435. View