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Hypophosphatasia with phenylketonuria

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 1974Publisher:Springer Science and Business Media LLCJournal:Zeitschrift f�r Kinderheilkunde, volume 117, pages 265-273 (issn: 0340-6199, eissn: 1432-1076,

Authors: Kenneth N. F. Shaw; Milan E. Blaskovics;

doi: 10.1007/bf00440493

pmid: 4413747

Hypophosphatasia with phenylketonuria

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Abstract

Hypophosphatasia and phenylketonuria have been encountered in a 9-month-old male infant as two independent inborn errors of metabolism. The pathognomonic triad of bony demineralization, subnormal alkaline phosphatase levels and increased excretion of phosphoethanolamine established the diagnosis of hypophosphatasia. The pattern of urinary metabolites and the results of phenylalanine tolerance testing confirmed the diagnosis of PKU. Serum alkaline phosphatase activity in this patient showed no variation with serum phenylalanine levels.

Related Organizations

University of California System
United States
Children's Hospital of Los Angeles
United States

Keywords

Male, Ethanolamines, Phenylalanine, Phenylketonurias, Humans, Hypophosphatasia, Infant, Alkaline Phosphatase

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Fields of Science

medical and health sciences

clinical medicine

Fields of Science

medical and health sciences

clinical medicine

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