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Pediatric Biotinidase Deficiency

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 a child's blood, organs and body systems.

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Children's Team

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Marshall Summar

Director, Rare Disease Institute Laboratory

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Inherited Metabolic Disorders Program

The Inherited Metabolic Disorders Program at Children's National Hospital has more than 600 active patients, making it one of the largest programs of its kind in the country.

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Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.

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Pediatric Biotinidase Deficiency

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Children's Team

Providers

Marshall Summar

Departments

Inherited Metabolic Disorders Program

Rare Disease Institute