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 ?
The confirmed diagnoses were methyl malonic acldaemia (MMA) in 2 (20%), non-ketotic hyperglycinaemia (NKHG) in 1 (10%), fructose 1, 6 diphosphatase deficiency in 1 (10%), and biotinidase deficiency in 1 (10%) (Table-Ib).
AutoDELFIA tests: Congenital Hypothyroidism, Galactosemia, Biotinidase deficiency, Congenital Adrenal Hyperplasia.
Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, treatable metabolic disorder.
Four disorders accounted for an estimated 50 or more cases (methylmalonic acidemia attributed to mutase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, carnitine uptake defect, and biotinidase deficiency).
The most common inborn errors of metabolism being screened by states and territories include PKU, hypothyroidism, galactosemia, bio biotinidase deficiency, congenital hypothyroidism, and maple syrup urine disease.
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.
Newborn screening for biotinidase deficiency. In: Carter TP, Wiley AM, eds.