Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

ABSTRACT:

Introduction

Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as an autosomal recessive trait. Due to the, biotinidase deficiency, biotin is not recycled. Individuals with BTD usually exhibit neurological and cutaneous abnormalities unless treated with biotin. Supplementation with biotin may either ameliorate or if early introduced even prevent symptoms when introduced presymptomatically.

Patients and methods

Since 1991, 22 Polish patients from 19 families have been diagnosed with BTD. In 16 children the diagnosis had been suspected on the basis of clinical signs: skin lesions, hyperventilation, seizures, spasticity, and laboratory investigation (elevated lactate and metabolites on urine organic acids profile). The defect was enzymatically (seru

SUBMITTER: Szymanska E 

PROVIDER: S-EPMC5471405 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature