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 ?
Ongoing research in disciplines including cell biology, biochemistry, enzymology and genetics (aided by increasing sophistication of techniques such as electron microscopy, chromatography, and spectrophotometry) enabled development of tests for congenital hypothyroidism, biotinidase deficiency, congenital adrenal hyperplasia, and hemoglobinopathies such as sickle cell disease.
pyruvate dehydrogenase deficiency [9], mitochondrial myopathies [10,11], and biotinidase deficiency [12]; measurement of lactate in CSF has also been advocated for investigating children with unexplained neurological disease [1,13].
Along with MCAD testing, the March of Dimes' recommended newborn screening test list includes: phenylketonuria (PKU), congenital hypothyroidism, galactosemia, sickle cell anemia, congenital adrenal hyperplasia (CAH), biotinidase deficiency, maple syrup urine disease, homocystinuria and a hearing test.