Psychiatric disorders in families of phenylketonuric patients
Phenylketonuria is an autosomal recessive disease caused by the inborn deficiency of phenylalanine hydroxylase enzyme in the homozygous individual. There are different defects in the enzymatic system of phenylalanine metabolism (1) and each of them can cause hyperphenylalaninemia, but we considered only the classical form of phenylketonuria. Usually the disease is associated with severe mental deficiency but there are several cases reported with near normal intelligence and some of them appeared to suffer from behavioral disturbances (2). Our aim was to select a sample of phenylketonuric patients and to study their familial pattern, particularly in their parents, in order to see whether there are any psychiatric pathologies in the supposed heterozygous carriers.
KeywordsPsychotic Disorder Autosomal Recessive Disease Intellective Quotient Familial Pattern Phenylalanine Metabolism
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