Biotinidase Deficiency

Disease name Biotinidase Deficiency
Enzyme Name Biotinidase
Clinical info Biotinidase deficiency is an autosomal recessive inborn error of metabolism in which infants appear normal at birth. However, if untreated, affected infants can develop symptoms including hypotonia, ataxia, seizures, developmental delay, vision and hearing loss and cutaneous problems (eg. alopecia, dermatitis, eczema). Those diagnosed at birth should remain asymptomatic if treatment is initiated early and maintained. Biotinidase deficiency is typically detected very early because of newborn screening programs, which measure biotinidase activity in dried blood spots
Indications Measurement of biotinidase activity in plasma or serum is available to confirm a new diagnosis and to determine whether the patient has partial or complete biotinidase deficiency. Prenatal diagnosis and carrier testing via enzyme analysis are not available.
Methodology Biotinidase enzyme activity is determined using a p-amidobenzoic acid (PABA) colorimetric reaction that is measured by spectrophotometry at a wavelength of 546nm.
Associated Tests Molecular analysis of the gene for biotinidase deficiency (BTD) is also available for identification of the causative mutations within a family, carrier status and prenatal diagnosis.
Specimen Requirements Biotinidase activity can be assessed in either serum or plasma samples.
Transport Collect serum in a red top tube and spin down and send frozen. Collect plasma in a sodium heparin green top tube (5-10 mL) and send via courier or 24-hour delivery at room temperature or spin down and send frozen (preferred).
Turnaround time 10 days
CPT Codes 82261
Cost $200
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

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