Alkaptonuria from bench to bedside and beyond

Abstract

Dr Michelle Muscat meets Mr Reece Edmends, the Administration and Communications officer of the Alkaptonuria Society based in Cambridge, UK. Alkaptonuria is also known as black bone disease, a disorder affecting the metabolism of tyrosine and phenylalanine, where homogentistic acid accumulation occurs in connective tissue (ochronosis). In the young the disease may be asymptomatic, with the main finding being urinary discoloration when left standing with symptoms such as joint pains starting to develop as they grow older. In alkaptonuria there is homogentistic acid oxidase deficiency. The Egyptian mummy Harwa - believed to date back as far as 1500 BC - was actually documented to be ochronotic and probably had alkaptonuria. Alkaptonuria is an autosomal recessive disorder first described by the British doctor Sir Archibald Garrod in 1902 - interestingly, Sir Archibald served in Malta providing medical consultancy to the army during World War One and was made Knight Commander (KCMG).