Inborn error of metabolism: inborn error of metabolism, any of multiple rare disorders that are caused by an inherited genetic defect and that alter the body’s ability to. Read our article and learn more on medlineplus: inborn errors of metabolism.
Abstract inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
Inborn errors of metabolism 156 infancy, not with a specific laboratory abnormality, but with organomegaly, facial coarseness and neurodegeneration and show a progressively degenerative course.
Inborn errors of metabolism (iems) individually are rare but collectively are common presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood.
Inborn error of metabolism: a heritable disorder of biochemistry examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (pku), and some forms of gout, sun sensitivity, and thyroid disease these are only a very few of the hundreds of known.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism the majority are due to defects of single genes that. Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions this makes it essential that the practicing pediatrician be familiar with.