7 Facts You Need to Know About Phenylketonuria (PKU)
What is PKU?
Phenylketonuria (PKU) is an inherited disorder that prevents the breakdown of the amino acid phenylalanine.
Enzyme Deficiency
PKU is caused by a deficiency of phenylalanine hydroxylase (PAH), leading to a toxic buildup of phenylalanine.
Symptoms of PKU
Symptoms include light skin, delayed mental skills, hyperactivity, and musty odor on breath or urine.
Inheritance of PKU
If both parents carry the gene for PKU, each child has a 25% chance of inheriting it.
Diagnosing PKU in Newborns
PKU is diagnosed through a routine blood test in newborns, usually before symptoms appear.
PKU Management
Managing PKU includes a special low-phenylalanine diet, supplements, and avoiding foods with aspartame.
Long-Term Care for PKU
Lifelong monitoring and a strict diet help prevent the serious effects of phenylalanine buildup.
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