Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in
the BTD gene. Resultant deficiency of free biotin leads to impaired activity of the enzyme …

Biotinidase deficiency is due to a defect in recycling of biotin and is a treatable autosomal
recessive inherited disorder. We describe two cases with unusual presenting symptoms and …

Background Biotinidase deficiency is a metabolic disorder characterized by inability to
recycle biotin with resultant delayed myelination. Clinical findings include seizures, ataxia …

We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old,
then stroke-like episodes and spastic diplegia in her 20s. Biotinidase deficiency was not …

Biotinidase deficiency is an autosomal recessively inherited metabolic disorder in which the
enzyme, biotinidase, is defective and the vitamin, biotin, is not recycled. Individuals with …

Background Biotinidase deficiency (BTD) is an autosomal recessive inborn error of
metabolism provoking progressive biotin depletion, which causes, in turn, multiple …

Biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle
protein-bound biotin. It usually presents with ataxia and seizures, though atypical …

Biotinidase (BTD) deficiency (OMIM 253260) is an autosomal recessively inherited
metabolic disorder resulting from deficient activity of the BTD enzyme, which can cleave and …

Biotinidase deficiency is one of the few treatable inborn errors of metabolism. We describe
unique MRI features in two patients with biotinidase deficiency. Brain MRI in case one …

Two infants with early presentation of biotinidase deficiency (age 3 weeks and 2 weeks) are
described. On admission, both children had severe neurological symptoms. In the first …