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| Isobutyryl-CoA dehydrogenase deficiency ： ウィキペディア英語版 |
Isobutyryl-coenzyme A dehydrogenase deficiency
Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic disorder in which the body is unable to process certain amino acids properly.
People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a build up of valine in the urine, a symptom called valinuria.
==Diagnosis==
Babies with this disorder are usually healthy at birth. The signs and symptoms may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). Another feature of this disorder may be very low blood levels of carnitine (a natural substance that helps convert certain foods into energy).
Isobutyryl-CoA dehydrogenase deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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