Garrod's tetrad
Encyclopedia
In medicine, Garrod's tetrad is a term named for British physician Archibald Garrod
, who introduced the phrase "inborn errors of metabolism" in a lecture in 1908.
The tetrad comprises four inherited metabolic diseases
: albinism
, alkaptonuria
, cystinuria
, and pentosuria
.
Archibald Garrod
Sir Archibald Edward Garrod KCMG, FRS was an English physician who pioneered the field of inborn errors of metabolism.- Education and Personal Life :...
, who introduced the phrase "inborn errors of metabolism" in a lecture in 1908.
The tetrad comprises four inherited metabolic diseases
Inborn error of metabolism
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others...
: albinism
Albinism
Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
, alkaptonuria
Alkaptonuria
Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
, cystinuria
Cystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.-Signs and symptoms:Cystinuria is a cause of persistent kidney stones...
, and pentosuria
Pentosuria
Pentosuria is a condition where xylulose presents in the urine in unusually high concentrations.It is associated with a deficiency of L-xylulose reductase....
.