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In some of these disorders, a specific deficiency is due to an inherited defect (e.g., hemophilia).
Twentieth-century medical investigation, in fact, suggested that the king had an inherited defect in his metabolism known as porphyria.
The best-known coagulation disorder is hemophilia, which is due to an inherited defect transmitted by the female but manifested almost exclusively in the male.
The immune disorder called chronic granulomatous disease results from an inherited defect that prevents phagocytic cells from producing enzymes needed to break down ingested pathogens.
Both syndromes are caused by a recessively inherited defect in the enzyme alpha-L-iduronidase, which is important in the development of connective tissues.
Congenital adrenal hyperplasia, also known as adrenogenital syndrome, is a disorder in which there is an inherited defect in one of the enzymes needed for the production of cortisol.
Similar(25)
"Glasses at 17," Gould wrote on his application form, noting his inherited defects.
Another group of hereditary cancers comprises those that stem from inherited defects in DNA repair mechanisms.
An estimated 10 percent of cases of pancreatic cancer are the result of inherited defects.
The findings, Dr. Jaenisch added, have had "broad implications for mammalian genetics" and helped explain the causes of inherited defects found in species other than laboratory mice.
In other instances, rickets and rickets-type disorders may be caused by inherited defects in genes whose products are involved in vitamin D or phosphate metabolism.
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