Diet and Inborn Errors of Metabolism

The relationship between the biochemical defect in the.hereditary condition, phenylketonuria (phenylpyruvic oligophrenia), and the accompanying mental defect is at the present time obscure. The work of F6lling (1) (8), phenyllactic acid (8), and phenylacetylglutamine (12). Abnormally high levels of phenylalanine are found in serum (20 to 60 mg. per 100 ml.) and cerebrospinal fluid (6 to 8 mg. per 100 ml.) (9) and phenylpyruvic acid has been demonstrated in the serum of affected individuals (10). Recently it has been found that lesser amounts of other abnormal metabolites are excreted. These include o-hydroxyphenylacetic acid (13, 14) and products derived from tyrosine (13, 15) and tryptophan (15,16). The manner in which these substances arise will be considered in later communications.

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Diet and Inborn Errors of Metabolism

Cited by 2 publications

References 20 publications

The Diagnosis of Malnutrition in Well-Nourished Communities

The Diagnosis of Malnutrition in Well-Nourished Communities

Studies on Phenylketonuria. I. Restricted Phenylalanine Intake in Phenylketonuria 1

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