Skin pigmentation, a window to diagnose Alkaptonuria: a very rare entity
نویسندگان
چکیده
منابع مشابه
Alkaptonuria: a very rare metabolic disorder.
Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA). Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-...
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Duplications of the alimentary tract (ATD) are rare congenital anomalies often found early in life. They may occur anywhere in the intestinal tract but the ileum is the most frequently affected site. Clinical presentation of ATD in adults is variable and because these lesions occur so infrequently they are rarely suspected. In the present report we describe a case of ileal duplication in a 61-y...
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ژورنال
عنوان ژورنال: International Journal of Research in Medical Sciences
سال: 2017
ISSN: 2320-6012,2320-6071
DOI: 10.18203/2320-6012.ijrms20172491