Next Article in Journal
Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder
Next Article in Special Issue
A Life in Newborn Screening
Previous Article in Journal
Evaluation of MBJ20® Transcutaneous Bilirubinometer in the Assessement of Severity of Neonatal Jaundice
Previous Article in Special Issue
A Non-Invasive Strategy for Neonatal Alloimmune Thrombocytopenia Diagnosis: Newborn Platelet Genotyping with Buccal Swabs
Article Menu

Export Article

Open AccessReview

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

Department of Research Administration, Henry Ford Hospital, Detroit, MI 48202, USA
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
Academic Editor: Harvey L. Levy
Int. J. Neonatal Screen. 2016, 2(4), 9;
Received: 6 August 2016 / Revised: 29 September 2016 / Accepted: 25 October 2016 / Published: 28 October 2016
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
PDF [525 KB, uploaded 28 October 2016]


Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes. Therefore, the disorder readily meets the major criteria for newborn screening. Our laboratory has been instrumental in developing, piloting and establishing newborn screening for the disorder in the United States and in many countries. This review discusses some of the “behind-the-scenes” aspects of how we spread the word about the disorder and what we learned from over 30 years of newborn screening. We also discuss some of the controversies and issues about biotinidase deficiency that remain to be addressed. Based on the successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening, this is one of the best, if not the best, disorder for which to perform newborn screening. In summary, “If an individual has to have an inherited metabolic disorder, biotinidase deficiency is the one to have.” View Full-Text
Keywords: biotinidase; biotinidase deficiency; biotin; newborn screening; outcomes biotinidase; biotinidase deficiency; biotin; newborn screening; outcomes

Graphical abstract

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Wolf, B. The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know. Int. J. Neonatal Screen. 2016, 2, 9.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Metrics

Article Access Statistics



[Return to top]
Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top