نتایج جستجو برای: alkaptonuria
تعداد نتایج: 375 فیلتر نتایج به سال:
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ...
The importance of identifying this anomaly is that it is associated with other congenital malformations in over 20% of cases, most commonly being associated with cardiovascular anomalies and congenital dislocation of hip. Of the 44 infants with this syndrome, Pape and Pickering found 27 to have major anomaly of skeletal, genitourinary, respiratory and cardiovascular systems. The disorder most c...
F Abbasi [1] , Ph.D S Naji [2] , Ph.D F Mirzatolui [3] , MD G Behjati [4] , Ph.D Received: 28 April, 2008 Accepted: 5 Nov, 2008 Abstract Alkaptonuria is a rare autosomal recessive disorder characterized by deficiency of homogentisic acid oxidase. This deficiency leads to accumulation of homogentisic acid in tissues and its urinary excretion and resulting in characteristic features like o...
Alkaptonuria is a rare metabolic disorder characterized by a deficiency of the homogentisic acid oxidase enzyme. The result is accumulation of homogentisic acid in collagenous structures throughout the body, especially in fibrous and cartilaginous tissue. This leads to gradual development of a phenomenon known as ochronosis. Characteristic features of ochronosis are urine darkening, progressive...
False proteinuria in patients with alkaptonuria Sirs, Alkaptonuria (AKU) is a rare autosomal re-cessive disorder characterised by the inability to metabolise homogentisic acid (HGA). In the absence of HGA oxidase, HGA is rapidly oxidised to benzoquinone acetic acid, which polymerises to a melanin-like pigment and deposits in connective tissue. Mus-culoskeletal involvement (ochronosis) is the mo...
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