Alkaptonuria is an autosomal recessive disease due to deficiency of the homogentisate oxidase
enzyme. It causes accumulation of homogentisic acid which deposits in cartilage
and connective tissue
(causing sacroiliac joint and knee pains). It is one of the
causes of pseudogout. Oxidation
of homogentisate causes urine to turn
dark on standing.
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Ain-Shams Cardiology Department CME(The first online Cardiology systemic review videos in the world from the scratch t... -
Bartter's s y ndrome is an autoso m al reces s ive renal dis o rder. Presentati o n is often in childhood w...
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