Biotinidase Deficiency—Immune System and Disorders

Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these “foreign” invaders. Then its job is to keep them out, or if it can’t, to find and destroy them.

If your immune system cannot do its job, the results can be serious. Disorders of the immune system include

• Allergy and asthma – immune responses to substances that are usually not harmful
• Immune deficiency diseases – disorders in which the immune system is missing one or more of its parts
• Autoimmune diseases – diseases causing your immune system to attack your own body’s cells and tissues by mistake

NIH: National Institute of Allergy and Infectious Diseases

• Agammaglobulinemia (Medical Encyclopedia)
• Aging changes in immunity (Medical Encyclopedia)
• Chronic granulomatous disease (Medical Encyclopedia)
• Graft-versus-host disease (Medical Encyclopedia)
• Histiocytosis (Medical Encyclopedia)
• Hyperimmunoglobulin E syndrome (Medical Encyclopedia)
• Immune response (Medical Encyclopedia)
• Immunodeficiency disorders (Medical Encyclopedia)
• Selective deficiency of IgA (Medical Encyclopedia)

Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed.Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.