#neet-ss Alkaptonuria
is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in different tissues of the body. Due to lack enough functional levels of an enzyme as a result of mutation of the homogentisate 1,2-dioxygenase (HGD) gene. This mutation is inherited as an autosomal recessive trait. required to breakdown the homogentistic acid
#D/D
*acute intirmittint porphyrea
…*mitral valve insufeciency in paediatrics.
#Work up:
*identification of homogentistic acid in the urine by gaz chromatography/spectrop
*spinal radiography *cxr *ecg *ct angio.*histological exam.of black stains cartilages.*DNA extraction &scanning for mutations