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Question:
Phenylketonuria (PKU) is a rare autosomal recessive disease that inhibits the metabolism of the protein phenylalanine. Phenylalanine is normally metabolized to the amino acid tyrosine, which is critical to a child’s normal growth and development. Likewise, the inability to metabolize phenylalanine can lead to harmful accumulation of it and it’s metabolites in the central nervous system leading to movement disorders and mental retardation if not diagnosed by age 3. The disease is managed with a strict low protein diet and tyrosine supplementation for life. Infants with PKU may be breastfed (low levels of phenylalanine) or receive special formula. The statement, “our child will be able to eat more protein once he reaches adolescence” demonstrates that further education on the nature and management of PKU is needed by the parents.
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