Wednesday, November 22, 2017

Alkaptonuria & Ochronosis.. Enzymatic dysfunction in tyrosine metabolism and phenylalanine. Deposition of black dye in the connective tissue. Pigmentation in the ossuary

Alkaptonuria & Ochronosis:
Is a hereditary disease inherited as an autosomal recessive organism due to enzymatic imbalance in the metabolism of tyrosine and phenylalanine.
Clinical manifestations:
- Dark urine becomes blacky recently due to the increased release of homogentic acid in the urine.
- Deposition of black dye in the connective tissue.
In the older ages the manifestations are:
- Pigmentation in the ossuary is the early mark.
- Deposition of pigment in the cartilage of the ears, nose, and tendons of the muscles and in the parties and may show brown spots spotted or blue.
- Internal organs especially large blood vessels, fuselage, larynx and genitalia may be infected.
- Injury to the joints of the joints of the vertebrae, hips, knees and shoulders.