What did Archibald Garrod mean by inborn errors of metabolism?
In his book, The Inborn Errors of Metabolism,3 Garrod considered alcaptonuria as an “inborn error of metabolism” after the manner of diabetes and gout, where “inborn” meant “hereditary,” although he also clarified the biochemical and distinctive clinical features of the disorder: “Of inborn errors of metabolism.
What are some inborn errors of metabolism?
Such prototypical inborn errors of metabolism include PKU, ornithine transcarbamylase deficiency, methylmalonicaciduria, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, galactosemia, and Gaucher’s disease.
Which disease is also known as inborn disease?
Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders.
What is the most likely reason that alkaptonuria is a recessive disease?
Alkaptonuria is an autosomal recessive disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. This enzyme deficiency results in increased levels of homogentisic acid, a product of tyrosine and phenylalanine metabolism.
What did Archibald Garrod discover about DNA?
molecular genetics In 1908 British physician Archibald Garrod proposed the important idea that the human disease alkaptonuria, and certain other hereditary diseases, were caused by inborn errors of metabolism, suggesting for the first time that linked genes had molecular action at the cell level.
Is metabolism inherited?
Metabolism is partly genetic and largely outside of one’s control. Changing it is a matter of considerable debate. Some people are just lucky. They inherited genes that promote a faster metabolism and can eat more than others without gaining weight.
Who proposed inborn errors of metabolism?
The first inborn error of metabolism (IEM) was described in 1902 by Sir Archibald Garrod. Since then, many more have been described, variously estimated as >600 (ref. 2) or >700 (ref. 3).
What are the complications of alkaptonuria?
Long-standing alkaptonuria leads to chronic joint pain and inflammation (arthritis), especially in the spine and large joints (ochronotic arthropathy). Arthritis can be severe and disabling. Low back pain and stiffness are common symptoms and are sometimes seen before the age of 30.
What type of mutation causes alkaptonuria?
Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins.
How can inborn errors of metabolism be treated?
The management of inborn errors of metabolism has traditionally consisted in diet therapy and supportive therapy, but recently other treatment options have become available, including enzyme and coenzyme replacement, removal of harmful substances, cell and organ transplantation, and gene therapy.