biotinidase deficiency

(redirected from Carboxylase Deficiency, Multiple, Late-Onset)

biotinidase deficiency

a rare, autosomal recessive disease causing loss of excessive biotin; clinical manifestations may be absent, but extreme manifestations include seizures, alopecia, dermatitis, hypotonia, optic atrophy, ataxia, developmental delay, hearing deficits, and occasionally immunodeficiency; trait has a prevalence of 1 in 60,000.

biotinidase deficiency

An autosomal recessive disease in which affected children fail to metabolize biotin effectively. Seizures, encephalopathy, neurodevelopmental delay, spasticity or diminished muscle tone, paresis, visual disturbances, deafness, skin rash, and hair loss commonly occur. Immediate ongoing treatment with supplemental biotin can effectively suppress the symptoms of this disease.
See also: deficiency