GROUP MEMBERS

NURUSHUHADA BT YAHYA (D20091035102) FADILAH BT MAHMUD (D20091035094) ROSNITAH BT YACOB (D20091035118) NUR ELIANA BT MOHMAD NOOR (D20091035093)

STUDY CASE 1
A healthy four-year-old boy of a first degree consanguineous couple was noted by the parent to have darkening of the urine to an almost black color when it was left standing. He had a normal sibling, and there were no other medical problems. Childhood growth and development were normal. As a biochemist, discuss this case.

ABOUT ALKAPTONURIA
Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air especially when left standing for a period of time A buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. People of this condition typically develop arthritis, heart and kidney problems.

How it happen ????

Mutation in the HGD gene.
The gene defect makes the body unable to properly break down certain amino acids a) Tyrosine b) Phenylalanine

Substance called homogentisic acid builds up in the skin and other body tissues HA accumulates in the blood The acid leaves the body through urine

The urine turn brownish black when it mix with air

HGD GENE
The HGD gene provides instructions for making an enzyme called homogentisate oxidase Homogentisate oxidase helps break down the amino acids phenylalanine and tyrosine Mutations in the HGD gene impair the enzyme's role Produce homogentisic acid(alkapton) accumulate in the blood Excess homogentisic acid causes damage to cartilage
(ochronosis) and heart valves as well as precipitating as kidney stones.