A previously healthy 7-week-old male infant was admitted because of clonic movements of
the upper limbs. Findings of a neurologic examination were normal. His psychomotor …

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 …

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

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 …

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 …

Discussion Biotinidase deficiency is an autosomal recessive metabolic disorder that may
present with severe neurological and cutaneous symptoms in early childhood. 4 Following …

Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly
presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) …

A 5-month-old male child presented with reports of multiple episodes of seizures and ataxia
since the neonatal period. Neurodevelopmental delay was present with poor neck holding …

Biotinidase deficiency: result of treatment with biotin from age 12 years. - Abstract - Europe PMC
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