Question

Who is credited with coining the phrase ‘Inborn Errors of Metabolism’? Describe the enzymatic defect and phenotype he used to discover this principle.

Answer 1

The phrase ‘Inborn Errors of Metabolism’ was coined by Archibald E Garrod in 1908. He was a British physician. The enzymatic defect and phenotype he used to discover this principle was related to the disease Alkaptonuria. All his discoveries were published in the paper entitled “A Contribution to the Study of Alkaptonuria" the paper was published in 'The Lancet' journal. He studied the increased excretion of “alkapton” through urine. The phenotype he notices was color change of urine (yellow to brown to black).  Alkaptonuria is due to a mutaion in the gene encoding the ezyme homogentisate 1,2-dioxygenase. This mutation causes defectiveness in processing the amino acids phenylalanine and tyrosine, It is an autosomal recessive disease.