biotinidase deficiency


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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
References in periodicals archive ?
AutoDELFIA tests: Congenital Hypothyroidism, Galactosemia, Biotinidase deficiency, Congenital Adrenal Hyperplasia.
Biotinidase deficiency has an inexpensive and reliable screening test, it is easily treatable and has a high morbidity and mortality in untreated cases.
Of these 8 tests, it is currently up to state public health agencies whether they also screen for maple syrup urine disease, homocystinuria, biotinidase deficiency, and congenital adrenal hyperplasia.
Under the expanded program, which will begin in late 2007, three additional tests will be sourced from PerkinElmer including: congenital adrenal hyperplasia (CAH), a hormonal disorder affecting the adrenal glands; Galactosemia, which if left untreated, can cause poor development or death; and biotinidase deficiency (BIOT), which can lead to seizures, developmental delay, eczema and hearing loss.