Tanzer, Fatoş Cumhuriyet University - School of Medicine - Departments of Pediatric Metabolism and Nutrition, Turkey , Ayvaz, Adnan Cumhuriyet University - School of Medicine - Departments of Pediatric Metabolism and Nutrition, Turkey , Fırat, Mehtap Cumhuriyet University - School of Medicine - Departments of Pediatric Metabolism and Nutrition, Turkey , Sancaktar, Murat Cumhuriyet University - School of Medicine - Departments of Pediatric Metabolism and Nutrition, Turkey

Three case reports of alkaptonuria, a rare metabolic disease, in two first-degree relatives and one patient

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Alkaptonuria is a rare hereditary disease, characterized by an abnormal blackish coloration of the urine, dark pigmentation of the connective tissue which is due to a deficiency in homogentisate 1, 2-dioxygenase (HGO), a tyrosine catabolizing enzyme. In this study two-years-old girl, five-year-old boy siblings and 11-month-old boy with alkaptonuria were presented. The diagnosis was confirmed by urinary homogentisic acid (HGA) amount. Normal levels of HGA in urine are 2.4 – 12 ng/ml. In these three cases within urine samples, the level of HGA (2.5-dihydroxyphenylacetic acid) showed an increase of 14, 14, 24 fold, respectively. The treatment focuses upon these aspects: correction of the production of HGA and prevention of complications. For reduction of HGA excretion has been suggested treatment with vitamin C and protein restriction have been proposed. Our patients were showed normal growth and development and no major complications of the disease because of consuming a diet with low protein.

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Alkaptonuria , homogentisic acid (HGA) , ochronosis

Cumhuriyet Medical Journal

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