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Many ailments due to inborn errors of metabolism have been traced to specific genetic defects.
The normally small quantities of amino acids in the urine may be much increased in advanced liver disease, in failure of tubular reabsorption, and in certain diseases due to inborn errors of protein metabolism.
Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed.
Deficiencies in these enzyme activities due to inborn errors of metabolism cause neuronal ceroid lipofuscinoses.
One main cause of hepatic encephalopathy is excessive nitrogen load, e.g. following renal failure or due to inborn errors of the urea cycle.
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We propose that their dysregulation (either due to inborn or de novo genomic mutations selected by treatment) could cause a relapse in apparent CR AML patients.
A lack of available QOL tools specific to inborn errors diagnoses was acknowledged by Ziesch as a possible limitation in his QOL study [ 22].
The involvement of stromal cells in cancer is a feature of the tissue organization theory of carcinogenesis [ 50], which equates cancer to inborn errors of development.
In infants, vitamin B12 deficiency may be due to an inborn error of absorption and metabolism, or nutritional problems.
Vitamin B12 deficiency in infancy may be due to an inborn error of absorption and metabolism, or (more frequently) nutritional problems.
Immunodeficiencies caused by lack of neutrophils due to an inborn error are rare, but the initial step in diagnosing such a disorder is easily taken, since neutropenia will be detected by a routine blood count with differential.
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