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Maternal PKU: who to treat and how to treat

Maternal PKU: who to treat and how to treat
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)

Maternal PKU: who to treat and how to treat Prof Friedrich K Trefz, Germany

Prof Friedrich K Trefz (Germany)

Professor Trefz discusses maternal PKU and looks at who to treat and how they should be treated. He reviews the research into birth defects and effect on offspring’s IQ at different blood phenylalanine levels, and explores the clinical symptoms of untreated maternal phenylketonuria. Case studies are used to provide practical examples of management. He explains the role of non-directive genetic counselling in cases where pregnant mothers with high blood phenylalanine are not already on diet and the possible implications of poor control in the early stages of pregnancy. ‘Emergency’ treatment after conception and other treatment options are discussed. He summarises the key requirements for good management of maternal PKU.


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