Alkaptonuria: Beyond physical symptomsHolzer LA
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Signs and symptomsAlkaptonuria itself is asymptomatic, but the sclera of the eyes may be pigmented (often only at a later age)[1] and the skin is darkened in sun-exposed areas as well as around sweat glands; sweat may be coloured brown. Urine may turn brown on standing, especially when ...
Alkaptonuria is caused by changes in genes or mutations, especially in the homogentisate 1,2-dioxygenase gene. This is acquired when the parents have these genes that are passed into their child. What are the signs and symptoms of alkaptonuria? One of the earliest signs of this condition is d...
Usually symptoms develop in people after the third decade of age, and this make the disorder undervalued even though the dark discoloration of the urine is present from birth. AKU is a very rare disease, since its prevalence is 1-9/1 000 000 (Orphanet) and, at the moment, without a ...
同义词:alcaptonuria 学习怎么用 双语例句 Thoracic myelopathy in a patient with alkaptonuria has not been previously reported. 之前尚无尿黑酸尿病人合并胸椎脊髓病的报道。 Despite the high incidence of intervertebral disc diseases among patients with alkaptonuria, neurologic symptoms caused by spinal disease...
Introduction: Alkaptonuria is an iconic disease, dating back to the Egyptians and has continued to prove a valuable teaching tool to many medics as an example of an inborn error of metabolism. In recent years, much progress has been made on understanding the condition and its symptoms; the ...
Neurological, psychological, and gastrointestinal symptoms may present as well. The hematoporphyrin pigment causes a characteristic reddish-brown discoloration of the teeth (erythrodontia). The dental effects are more common in the primary than the permanent dentition. Coloration is dispersed throughout ...
The patholoanatomical picture of ochronosis in the respiratory tract has been well known for a long time from autopsy and histological findings, whereas the clinical symptoms in this organ system have not been sufficiently observed or described. The reasons were few symptoms and problems with ...
Usually, symptoms of AKU initiate from ochronotic pigmentation in the 4th decade of life, which is followed by painful joint destruction requiring artificial joint replacement and cardiac valvular problems in the mid-50s and the formation of renal stones in the 60 s2. However, some of our ...