An Inborn Error of Metabolism with the Urinary Excretion of -Hydroxy-Butyric Acid and Phenylpyruvic Acid
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چکیده
منابع مشابه
AN INBORN ERROR OF METABOLISM WITH THE URINARY EXCRETION OF a-HYDROXY-BUTYRIC ACID AND PHENYLPYRUVIC ACID
We have recently seen a baby girl with gross mental deficiency who had repeated attacks of generalized oedema. She also had an extremely unpleasant, pungent smell due to the presence in her urine of a substance derived from ox-hydroxy-butyric acid. So far as we know, this acid has not previously been detected in human urine. The urine also contained phenylpyruvic acid and phenylacetic acid as w...
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We have recently seen a baby girl with gross mental deficiency who had repeated attacks of generalized oedema. She also had an extremely unpleasant, pungent smell due to the presence in her urine of a substance derived from ox-hydroxy-butyric acid. So far as we know, this acid has not previously been detected in human urine. The urine also contained phenylpyruvic acid and phenylacetic acid as w...
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Background: Alkaptonuria (AKU) is a rare hereditary metabolic disorder that occupies a unique position in the history of medical and biochemical genetics because it was the first human metabolic disorder to be interpreted as genetically determined. This condition is characterized by deficiency of HGAO, an enzyme that is mainly found in hepatocytes. The medical interest in alkaptonuria stems fro...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1958
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.33.168.109