González-Reyes EC, Marrero-González N

Language: Spanish
References: 0
Page: 80-86
PDF size: 168.00 Kb.

ABSTRACT

Biotinidase is responsible for cleaving biotin from biocytin or from short biotinyl-peptides and for liberating the vitamin from dietary protein-bound sources. In humans, biotin acts as the prosthetic group of four carboxylases, essentials in metabolic processes like gluconeogenesis, fatty acid synthesis and amino acid catabolism. Genetic studies have determined that the human biotinidase gene is located in human chromosome 3p25. Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism caused by the absence or deficiency of the enzyme. Affected patients with the disease show convulsive crises, hypotonia, ataxia, alopecia, skin rash and developmental delay. The most severe cases can develop a coma and die. Early diagnosis of the disorder and the therapy with substitutive doses of biotin prevent clinical manifestations and biochemical alterations.
Biotinidase deficiency satisfies the major criteria for its inclusion as a disorder in the newborn screening programs: 1) it’s very difficult to realize a certain clinical diagnostic, 2) a highly effective treatment exists, 3) the screening methods are simple, reliable and inexpensive, 4) the incidence of the disorder is similar to other diseases included in newborn screening programs.