Clotted blood tube (Clot activator tube)

Minimum blood volume: 6 mL

Paediatric clotted blood tube

Number of vials: 2

Minimum blood volume: 1.6 mL

Method

Spectrophotometry

Source: modified from Dove Pettit D.A. and Wolf B., 1991

Diagnosis of biotinidase deficiency, an autosomal recessive inherited disorder of biotin recycling. Signs and symptoms include hypotonia, seizures, ataxia, developmental delay, skin rash, alopecia, and organic aciduria.

Results interpreted by medical and scientific staff specialised in the field of inherited metabolic diseases.

To confirm biotinidase deficiency, measure biotinidase activities for immediate family members. Children with other type of biotin-responsive disorder, such as holocarboxylase synthetase deficiency (neonatal-onset multiple carboxylase deficiency), can exhibit symptoms similar to those of biotinidase deficiency.

See table.