The problem of a rare enzyme disorder being mistakenly diagnosed as neuromyelitis optica spectrum disorder (NMOSD) is highlighted in a new case report involving a child. "Clinical features are ...

Biotinidase deficiency is an autosomal recessive metabolic disorder that impairs the body’s ability to recycle biotin, a vital co-enzyme for carboxylase reactions. Clinically, untreated deficiency ...

A metabolic disorder, biotinidase deficiency, is a condition in which the enzyme biotinidase becomes faulty. It is a neurocutaneous disorder and follows an autosomal recessive pattern of inheritance.