Clinical findings in untreated classic phenylketonuria

S. Restrepo, H. Aguero, P. Jayakar, A. J. Luis, I. Alfonso

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Phenylketonuria (PKU) is usually detected in the neonatal period with the use of Guthrie test. We present a 3-year-old girl whose diagnosis of PKU was established at 21/2 years of age. She presented with severe learning disability, poor behavior control, and aphasia. A urine phenylpyruvic acid test using ferric chloride done in Paraguay at 5 days of age was normal. Physical examination was remarkable for a very light skin color and red-white hair. The patient's mother has dark skin and black hair an the father has light skin and brown hair. Neurological examination revealed mental retardation and hyperactivity. A low phenylalanine diet was started and her behavior and vocabulary improved. This case report describes the clinical manifestations of untreated classic PKU and confirms that ferric chloride urine test has a low sensitivity and should not be used to exclude PKU.

Original languageEnglish (US)
Pages (from-to)232-234
Number of pages3
JournalInternational Pediatrics
Volume14
Issue number4
StatePublished - Dec 1 1999

Keywords

  • Ferric chloride test
  • Hyperactivity
  • Phenylketonuria

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Restrepo, S., Aguero, H., Jayakar, P., Luis, A. J., & Alfonso, I. (1999). Clinical findings in untreated classic phenylketonuria. International Pediatrics, 14(4), 232-234.