realizată de Marcela Sofia Cerda Sada 14 ore în urmă
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Generalmente se detecta en la primera infancia. Los signos y síntomas suelen aparecer entre los 2 y 5 años.
Is controlled with a strict diet, avoiding foods with phenylalanine such as meats, dairy products and products with aspartame.
It is detected in newborns through biochemical tests
Musty odor in breath, skin or urine, caused by too much phenylalanine in the body
Skin rashes, such as eczema
Unusually small head size (microcephaly)
Children with this condition usually have a lighter complexion, hair and eyes
Phenylketonuria (PKU) is caused by variants in the PAH gene, which encodes the enzyme phenylalanine hydroxylase (PAH) in the chromosome 12. PAH is mainly expressed in the liver.