Defective genes can cause breaks in the metabolic recycling process for purines and pyrimidines, the building blocks of nucleotides. When these molecules are not metabolized properly, any one of several genetic disorders can occur. Symptoms can include anemia, autism, epilepsy, delayed development, deafness, kidney failure or stones, or compromised immunity.
Xanthine Oxidase Deficiency
Xanthinuria, or xanthine oxidase deficiency, is an inherited metabolic disorder in which there is deficiency of an enzyme needed to process xanthine, a substance found in caffeine and related substances. If left untreated, xanthinuria can lead to kidney stone formation and subsequent urinary tract diseases. Additionally, this condition can lead to muscle disorders, due to deposits of xanthine in muscle tissue. Treatment of the condition involves avoiding foods and drinks that contain xanthine derivatives, such as coffee, tea and colas and maintaining a high fluid intake to minimize the likelihood of forming stones.
Adenosine Deaminase Deficiency
Adenosine deaminase deficiency is a genetic disorder that impairs the immune system and is the basis of severe combined immunodeficiency, or SCID. Children diagnosed with SCID are typically deficient in almost all immune protection from pathogens and are vulnerable to chronic infections caused by "opportunistic" organisms that ordinarily do not cause disease in healthy people with a normal immune response. Symptoms of SCID include pneumonia and chronic diarrhea, with impeded growth compared to healthy children. Additionally, neurological problems such as developmental delay, motor function disorders and hearing loss often occur. Left untreated, children with SCID usually survive only a year or two.
Myoadenylate Deaminase Deficiency
Myoadenylate deaminase deficiency, or muscle adenosine monophosphate deaminase deficiency, is a genetic disease that interferes with the muscle cell's processing of ATP, the key energy molecule of a cell. The lack of an enzyme that converts ATP to inosine and ammonia may present no symptoms or it may cause exercise-induced cramping. The disorder is diagnosed through the accumulation of ammonia or inosine monophosphate in muscle tissue, and treatment typically consists of exercise modulation.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a metabolic disorder caused by a deficiency of an enzyme produced by mutations in a gene located on the X chromosome. The disease is marked by a buildup of uric acid in all body fluids that results in conditions known as hyperuricemia and hyperuricosuria. Symptoms often include severe gout, impaired muscular control, moderate mental retardation and kidney problems. These complications frequently emerge in the first year of life. Neurological symptoms can include facial grimacing, involuntary writhing and repetitive movements. The mental deficits and behavior do not react well to therapy. There is no known cure, but many patients can survive to adulthood.
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