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Absent phenylalanine hydroxylase activity without phenylketonuria

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Abstract

A male infant is described who never manifested phenylketonuria even though phenylalanine hydroxylase activity was undetectable in liver tissue. Plasma phenylalanine were elevated in the range typical of PKU patients when the baby was at breast and declined with institution of a low phenylalanine diet. Physical and psychomotor development were normal with the baby on the latter treatment. The results indicate that the absence of phenylketonuria does not rule out phenylalanine hydroxylase activity.

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Authors and Affiliations

  1. Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, 19104, Philadelphia, PA, USA

    Marc Yudkoff & Stanton Segal

  2. Pediatrics Department, University of Pennsylvania School of Medicine, Philadelphia, USA

    Marc Yudkoff & Stanton Segal

Authors
  1. Marc Yudkoff
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  2. Stanton Segal
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Additional information

Supported by grants CRC RR 00246 from the National Institute of Health and 1-638 from the National Foundation March of Dimes. Dr. Yudkoff is a recipient of grant 140-1977 from the Daland Fund of the American Philosophical Society

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Yudkoff, M., Segal, S. Absent phenylalanine hydroxylase activity without phenylketonuria. Eur J Pediatr 134, 85–86 (1980). https://doi.org/10.1007/BF00442409

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  • DOI: https://doi.org/10.1007/BF00442409

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