The clinical and biochemical characteristics of 44 PKU children, diagnosed at an average age of 3 years 11 months is presented. 90% of these children consulted because of delayed psychomotor development or mental retardation: 100% of them showed hypopigmented skin, but only 32% had bright colored eyes, 86% had a peculiar must odor. The neurological signs and symptoms were predominantly hyperactivity, irritability, hypotonia and hyperreflexia. Fenic chloride and 2-4 dinitrophenylhydrazine tests were positive in all patients. Paper chromatography of amino acids demonstrated levels of phenylalanine over 20 mg%. The importance of making an early diagnosis and treatment in order to prevent mental retardation is emphasized. The need to develop newborn screening for PKU in our country is raised.

Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development (Rev Méd Chile 2005; 133: 33-41).

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