Three cases of alkaptonuria in one family in Mazandaran Province, Iran (original) (raw)
2013, Caspian journal of internal medicine
Alkaptonuria is a rare genetic disease leading to the accumulation of homogentesic acid in joint and ear cartilage, sclera and some other tissues causing significant morbidity in these patients. In this paper, we report three cases of Alkaptonuria among the family or household members. A 51-year-old man with mechanical low back and knee pain was referred to Rheumatology Clinic of Babol University of Medical Sciences. The physical examination showed thoracic kyphosis and limitation of motion in thoraco-lumbar spine, severe knee osteoarthritis and blue-black discoloration of ear cartilages. There was intervertebral disc calcification in plain radiography, and mitral valve calcification in echocardiography. His urine sample was tested positive in Benedict's test. The diagnosis was confirmed by qualitative assessment of homogentesic acid (HGA) that was highly positive. In addition, we found two more cases of Alkaptonuria in his family. Although alkaptonuria is a rare disease, but it...
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Journal of Neurosciences in Rural Practice, 2015
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Alkaptonuria, a Rare Genetic Disorder and its Molecular Basis
Alkaptonuria (AKU) involves a one of a noticeable place in the historical background of human hereditary qualities since it was the principal infection to be translated as a Mendelian latent attribute by Garrod in 1902. Alkaptonuria is an uncommon metabolic issue coming about because of loss of homogentisate 1, 2 dioxygenase (HGO) movement. Mutations become the cause of this leads which may be due to loss-of-function mutation and missense mutation. Influenced people gather expansive amounts of homogentisic corrosive, a mediator result of the catabolism of tyrosine and phenylalanine, which obscures the urine and stores in connective tissues bringing on an incapacitating joint inflammation. Dietary confinement of tyrosine and phenylalanine lead to a decrease in the generation of HGA, however, a serious limitation of the mentioned amino acids is harmful in the long run and might be perilous.
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