Health Professionals Guide to Newborn Screening

Biotinidase Deficiency

Autosomal recessive disorder of biotin recycling that leads to multiple carboxylase deficiencies. Individuals with biotinidase deficiency cannot recycle endogenous biotin and cannot release dietary protein-bound biotin..

Prevalence (WI):	1:110,000
Analyte Measured:	Biotinidase enzyme activity
Abnormal Levels:	No enzyme activity
Feeding Effect:	None
Timing Effect:	No effect
Confirmation:	Repeat newborn screen. If abnormal, quantitative serum assay is recommended. Contact a metabolic clinic.
Treatment:	Daily biotin supplement

Information on treatment centers is also available on this site.

For information about other screened disorders, click on the next page button, or follow one of these links:

• Argininosuccinic Acidemia (ASA)	• Hemoglobin Variants
• Biotinidase Deficiency	• Homocystinuria
• Congenital Adrenal Hyperplasia	• Hypermethioninemia
• Congenital Hypothyroidism	• Hyperphenyalaninemia
• Citrullinemia (Types I & II)	• Maple Syrup Urine Disease
• Cystic Fibrosis	• Organic Acidemias (14)
• Fatty Acid Oxidation Disorders (12)	• Phenylketonuria (Includes Biopterin Cofactor defects of regeneration and biosynthesis)
• Galactosemia	• Severe Combined Immune Deficiency (SCID)
• Hemoglobin S-Beta Thallassemia	• Sickle Cell Disease
• Hemoglobin S/C Disease	• Tyrosinemia (Types I,II, & III)

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