Melanin pigments are the most common pigments produced in nature and these complex biopolymers are found in species of all biological kingdoms. There are several categories of melanins which include eumelanins, pheomelanins and allomelanins. Eumelanins and pheomelanins are produced from oxidation of tyrosine or phenylalanine to odihydroxyphenylalanine (DOPA) and dopaquinone. Pheomelanin results...

The mother of a four month old female baby attended in the well baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non consanguineous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half month. The urine when kept in a test tube for two hours turned black. Laboratory examination of urine r...

A case of alcaptonuria combined with aortic insufficiency was found in a 28-year-old male. The patient was palpitating at admission. The daily excretion of homogentisic acid was 2.0-6.0 g. Electrocardiography indicated atrial fibrillation and left ventricular hypertrophy with a ST-T change and right axis deviation. Cartilage tissues in the knee-joints showed no pigmentation. Vertebral X-ray rev...

Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of homogentisic acid (HGA). Excretion of HGA in urine causes darkening of urine and its deposition in connective tissues causes dark pigmentation (ochronosis), early degeneration of articular cartilage, weakening of the tendons, and subsequent rupture. In this case report, we present a rare case of a patient pre...

INTRODUCTION Alkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid deposits in connective tissue. In rare cases, ochronosis can cause valvular heart disease. CASE PRESENTATION We present the case of a 68-year-old Caucasian man with alkaptonuria-associated degenerative valvular defects with aortic, mitral and tricuspid valve insuff...

ALKAPTONURIA (AKU) is a rare inherited genetic disorder of tyrosine metabolism characterized by the triad of homogentisicaciduria, ochronosis and arthritis. It is one of the conditions in which Mandelian recessive inheritance was proposed.1 It was also one of the four inborn errors of metabolism described by Garrod in his croonian lectures of 1908.2 The clinical manifestations are that urine tu...