Garrod's Tetrad
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In medicine, Garrod's tetrad is a term named for British physician Archibald Garrod, who introduced the phrase "
inborn errors of metabolism Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substr ...
" in a lecture in 1908.Archibald E. Garrod. ''Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London'', 1908 The tetrad comprises four inherited metabolic diseases:
albinism Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. Individuals with the condition are referred to as albinos. Varied use and interpretation of ...
,
alkaptonuria Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the ''HGD'' gene for the enzyme homogentisate 1,2-dioxygenase (); if a person inherits an abnormal copy from both parents (it is a dominance relationship, recessive c ...
,
cystinuria Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. ...
, and
pentosuria Pentosuria, a component of Garrod’s tetrad, is a condition where the sugar L-xylulose, a pentose, presents in the urine in unusually high concentrations. It was characterized as an inborn error of carbohydrate metabolism in 1908. It is associa ...
.


References

Inborn errors of metabolism {{endocrine-disease-stub