Biotinidase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Biotinidase Deficiency
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. Free biotin is needed by enzymes called biotin-dependent carboxylases to break down fats, proteins, and carbohydrates. Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency.
Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns
This condition is inherited in an autosomal recessive pattern, which means both copies of the BTD gene in each cell have mutations. The parents of an individual with biotinidase deficiency each carry one copy of the mutated gene, but they typically do not have any health problems associated with the condition.
Vykuntaraju Gowda practices practicing medicine in Bengaluru, India. Gowda is rated as an Elite expert by MediFind in the treatment of Biotinidase Deficiency. They are also highly rated in 75 other conditions, according to our data. Their clinical expertise encompasses Multiple Carboxylase Deficiency, Biotinidase Deficiency, Riboflavin Transporter Deficiency Neuronopathy, and Microcephaly.
Children's Hospital Pediatric Associates, Inc
Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as a Distinguished provider by MediFind in the treatment of Biotinidase Deficiency. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Smith-Lemli-Opitz Syndrome. Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of Biotinidase Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.
Summary: Retro-prospective, single-centre, observational study conducted at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy. The study involves children born in Emilia-Romagna region, Italy, from January 2016 to December 2020 with biotinidase deficiency identified through Neontal Screening at the Endocrine-Metabolic Diseases Center o...
Published Date: December 01, 2014
Published By: National Institutes of Health