Medical Dictionary – The definition of Alcaptonuria
Alcaptonuria or Alkaptonuria is the congenital absence of the homgentisic acid oxidase enzyme which is important in the breakdown of the amino acids phenylalanine and tyrosine. The accumulation of the homogentisic acid will lead to the skin and eyes to develop a dark brown discoloration which is also known as ochronosis. This will lead to progressive damage to the spine. Alcaptonuria is associated with recessive gene disorder which means that a child will be affected if both of the parents are the carrier of the defective genes.
Alcaptonuria or Alkaptonuria is the congenital absence of the homgentisic acid oxidase enzyme which is important in the breakdown of the amino acids phenylalanine and tyrosine. The accumulation of the homogentisic acid will lead to the skin and eyes to develop a dark brown discoloration which is also known as ochronosis. This will lead to progressive damage to the spine. Alcaptonuria is associated with recessive gene disorder which means that a child will be affected if both of the parents are the carrier of the defective genes.