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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2005, Number 3

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Rev Biomed 2005; 16 (3)

Biotinidase deficiency.

Moreno-Arango JA, Texidor-Llopiz L

Language: Spanish
References: 71
Page: 185-192
PDF size: 77.49 Kb.


ABSTRACT

Objectives. To offer information about biotinidase deficiency.
Sources. Text books and articles. Results. Inborn errors of metabolism are characterized by alterations in the synthesis or working of some enzymes that participate in different processes in the organism, one of these defects is biotinidase deficiency. Biotinidase is the enzyme responsible for cleaving biotin from biocytin or from short biotnyl peptides and for liberating the vitamin from dietary protein-bound sources. In humans, biotin is a B complex vitamin that acts as the prosthetic group of four carboxilases, essential in metabolic processes such as: gluconeogenesis, fatty acid synthesis, and amino acid catabolism. Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism, caused by the absence or deficiency of the enzyme, and genetic studies have determined the human gene is located in chromosome 3p25. Patients affected with the disease show convulsive crises, hypotonia, ataxia, skin rash, alopecia, and neurological problems, but early diagnosis and therapy with substitutive doses of biotin prevent clinical manifestations and biochemical alterations.
Conclusions. Biotinidase deficiency is an autosomal recessive disorder caused by the absence or deficiency of the enzyme and the symptoms result from the inability to reutilize biotin.


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