Inborn error of metabolism definition - medical term
A heritable disorder of biochemistry. Examples of inborn errors of metabolism
incl
ude 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.
Advances in the diagnosis and treatment of inborn errors of
metabolism have improved the outlook for many of these conditions so
that early diagnosis, if possible in infancy, can be helpful.
Many of the inborn errors of metabolism in young infants cause
symptoms such as sluggishness (lethargy), poor feeding, apnea
(stopping breathing) or tachypnea (fast breathing), and recurrent
vomiting.
Any infants, particularly full-term infants, with these findings
should be seen and checked by a doctor.
Appropriate laboratory testing for metabolic disorders should be
performed in children who are possible candidates for inborn errors
of metabolism. This testing might, for example, include:
Blood sugar: Hypoglycemia (low blood sugar) is the
predominant finding in a number of inborn errors of metabolism.
Blood tests for jaundice (yellowing) or other evidence of liver
disease: This is a sign of another important group of inborn
errors of metabolism.
Specific patterns of birth defects characterize yet another group
of inherited metabolic disorders.
The great number, complexity, and varied features of the inborn
errors of metabolism require a book, a large book, to consider each
one of them in detail. While most of these disorders are individually
rare, together they represent a major source of human disease and
suffering.
The term "inborn error of metabolism" was coined in 1908 by the
British physician and pioneer in medical genetics, Sir Archibald
Garrod (whose father also discovered a key abnormality in metabolism:
the presence of uric acid in the urine of people with gout). The 4
inborn errors of metabolism that Archibald Garrod considered were
albinism, alkaptonuria, pentosuria, and cystinuria.
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