Współwystępowanie dwóch rzadkich chorób genetycznych: fenyloketonurii oraz zespołu Pradera i Williego. Opis przypadku

Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by an error of phenylalanine metabolism. Delayed treatment or treatment performed unsystematically might lead to neurological disorders and progressive intellectual disability. In the Prader-Willi syndrome (PWS) clinical manifestations change with age. Feeding difficulties resulting from the poor suck and hypotonia are typical in the neonatal period and early infancy. As patients grow their activities increase, muscle tone improves, the extreme hyperphagia appears - the main cause of obesity. Mental development of patients is usually mildly retarded. We report the case of a patient affected by two genetic diseases: PKU and PWS. Variety of clinical symptoms and abnormal results of laboratory analyses make the correct diagnosis difficult. Elevated phenylalanine level in screening newborn test, disorders of muscle tone, poor suck, and low urine biopterin concentration did not allow to clearly rule out the hyperphenylalaninemia caused by a tetrahydrobiopterin deficiency (BH4). Data from obstetric anamnesis and the early postnatal clinical findings suggested the PWS. Hyperphagia and the increased risk of carbohydrates tolerance disorders in patients with PWS make it very difficult to balance properly the low-phenylanine diet necessary in PKU treatment. The patient presented by us needs well-coordinated multidisciplinary medical care which aims to provide proper physical development and to support the boy's mental potential as well as appropriate functioning in the society.