Phenylketonuria history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

History and Symptoms

Maternal PKU

Clinical manifestations in the newborn:

• Low weight at birth.
• Microcephaly.
• Intellectual disabilities.
• Congenital heart disease (especially of left heart chambers).
• Digestive tract deffects.
• Renal malformations.

Clinical manifestations in the mother:

• Multiple abortions.

The fetus starts producing PAH hepatic enzyme by the 26^thweek of pregnancy, before this, the fetus depends on the mother to metabolize the Phe, and if she has a deficiency of PAH, the fetus will double the Phe blood levels of the mother, which is why women with PKU should follow strict diet and treatment before, and during the pregnancy.

• Ideal levels of Phe during pregnancy: <180 µmol/L
• Teratogenic and neurotoxic levels of Phe: 360 µmol/L