Clinical issues and frequent questions about biotinidase deficiency.
Biotinidase deficiency is a biotin-responsive, inherited neurocutaneous disorder. The disorder is readily treatable and is screened for in the newborn period. Over the years since the discovery of the disorder, many practical questions and issues have been raised as to the diagnosis, management, treatment, and newborn screening of the disorder. In this paper, many of these issues are addressed using evidence-based medicine and anecdotal experiences. If adequate answers are not known, the answers to these queries will require future investigations.
Department of Medical Genetics, Henry Ford Hospital, 3031 West Grand Blvd., Suite 700, Detroit, MI 48202, USA. bwolf1@hfhs.org
Barry
B
Wolf
D000818:Animals; D001710:Biotin / Q000097:blood / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D019317:Evidence-Based Medicine; D005189:False Positive Reactions; D034381:Hearing Loss / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008239:Lysine / Q000031:analogs & derivatives / Q000633:toxicity; D015997:Neonatal Screening; D011485:Protein Binding; D013048:Specimen Handling
D001710:Biotin; C013411:biocytin; D008239:Lysine