An Inborn Error of Metabolism with the Urinary Excretion of α-Hydroxy-Butyric Acid and Phenylpyruvic Acid

阅读量:

40

作者:

AJ SmithLB Strang

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摘要:

A child is described in whom a syndrome of mental deficiency and recurrent episodes of oedema were associated with the urinary excretion of α-hydroxy-butyric acid and phenylpyruvic acid. The presence of a-hydroxy-butyric acid gave rise to an unusual smell. Phenylacetic acid, phenylalanine, tyrosine and methionine were also present in excess in the urine. Some possible modes of formation of the α-hydroxy-butyric acid are discussed.

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DOI:

10.1136/adc.33.168.109

被引量:

110

年份:

1958

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1959
被引量:6

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