BCHM 10000 Lecture Notes - Lecture 11: Nitisinone, Phenylalanine, Archibald Garrod
3 Jul 2018
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Other Amino Acids
●There are other amino acids that are not incorporated into proteins or are made from a
conventional amino acid once it has been incorporated into a protein
●Ascorbic acid (vitamin C) is required for the production of hydroxyproline and
hydroxylysine, both of which are found in connective tissue
●A deficiency in vitamin C is known as scurvy
Alkaptonuria
• Discovery
– Alcaptonuria first described first by Archibald Garrod
– The incidence of alkaptonuria: a study in chemical individuality. Lancet 160:
1616-1620, 1902
• Symptoms
– Urine turns black on standing
– Black pigmentation in connective tissue (ochronosis)
– Arthritis
– kidney stones and heart valve defects develop later in life
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Document Summary
There are other amino acids that are not incorporated into proteins or are made from a conventional amino acid once it has been incorporated into a protein. Ascorbic acid (vitamin c) is required for the production of hydroxyproline and hydroxylysine, both of which are found in connective tissue. A deficiency in vitamin c is known as scurvy. Alcaptonuria first described first by archibald garrod. The incidence of alkaptonuria: a study in chemical individuality. Kidney stones and heart valve defects develop later in life. Affects 1 in 200,000 newborns in most populations: treatment. Ascorbic acid (vitamin c) supplementation: reduced levels of bqa but usually does not change levels of homogentisic acid. Reduction of dietary aromatic amino acid intake. 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (ntbc; nitisinone: inhibitor of 4-hydroxyphenylpyruvate dioxygenase, cause. Alteration in the gene encoding homogentisate 1,2-dioxygenase (hgd) Mutations in this gene have been identified.
