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Biotinidase Deficiency Fact Sheet Primary Defect Deficiency of the enzyme affects normal biotin (one of the B vitamins) recycling. This results in a biotin deficiency. Screening Test Colorimetric assay of enzyme activity. Etiology & Prevalence Genetic (autosomal recessive) Occurs in about 1 in 60,000 births If Untreated Severe deficiency may result in metabolic crisis, coma and death Neurological impacts include convulsions, developmental delay, hearing loss, visual impairment. Other effects include skin rash and hair loss. Therapy Oral biotin replacement With Treatment Treatment before onset can prevent all symptoms. Treatment after onset will resolve some symptoms but will not reverse all damage. |
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Washington State Department of Health Last
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11/20/2006 09:39 AM
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