2 Disease list and descriptions: A 15 2.1 Amino acid (AA) metabolism (aromatic) (Albinism, Alkaptonuria, Tyrosinemia, Waardenburg syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.1 Albinism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.2 Alkaptonuria . . . . . . . . . . . . . . . . . . ....

Alkaptonuria (AKU for short) was the first genetic disease ever identified as such, by Dr Archibald Garrod in 1901 in London [1]. It is a rare disease affecting approximately one in 250,000 people, apart from countries such as Slovakia, Jordan and parts of South India where the number is up to 10 times higher [2]. Alkaptonuria is a monogenic disease leading to an enzyme deficiency, causing the ...

ALKAPTONURIA (AKU) is a rare inherited genetic disorder of tyrosine metabolism characterized by the triad of homogentisicaciduria, ochronosis and arthritis. It is one of the conditions in which Mandelian recessive inheritance was proposed.1 It was also one of the four inborn errors of metabolism described by Garrod in his croonian lectures of 1908.2 The clinical manifestations are that urine tu...