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.

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