This inherited disorder is characterized by a deficiency of the biotinidase enzyme. This enzyme is important in metabolizing biotin, a B vitamin. It affects 1 in 60,000 to 75,000 babies in the U.S. and is most common in the people of European descent. Lack of the enzyme can lead to severe acid build up in the blood, organs, and body systems.
Our Inherited Metabolic Disorders Program is one of the largest in the country with more than 300 active patients.
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Learn more about the causes, symptoms and treatments for lysosomal storage disease, a genetic condition.