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Results 1 - 7 of 7 for Biotinidase deficiency
  1. Genetics Home Reference: Biotinidase deficiency From the National Institutes of Health (National Library of Medicine)  
    ... gov Research studies OMIM Genetic disorder catalog Conditions > Biotinidase deficiency On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed January 2008 What is biotinidase deficiency? Biotinidase deficiency is an inherited disorder in which ...
  2. Newborn Screening Tests (Nemours Foundation)  
    ... of Mediterranean, Middle Eastern, and South Asian descent. Biotinidase Deficiency Babies with this condition don't have enough biotinidase, an enzyme that recycles biotin (a B vitamin) in the body. The deficiency may cause seizures , poor muscle control, immune system ...
  3. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  4. Newborn Screening (National Library of Medicine)  
    Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include Tests ...
  5. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
  6. ... Some of these include: Amino acid metabolism disorders Biotinidase deficiency Congenital adrenal hyperplasia Congenital hypothyroidism Cystic fibrosis Fatty ...
  7. Newborn Screening Interactive Tutorial (Patient Education Institute)  
    ... following are examples of metabolic disorders. • PKU • Galactosemia • Biotinidase deficiency • MSUD • Homocystinuria The following are examples of hormonal ...