When this happens, your baby is called a PKU carrier.Īll babies are screened for PKU soon after they’re born. If they inherit the gene from just one parent, they have the gene change for PKU but they don’t have PKU. Your baby has to inherit a gene change for PKU from both parents to have PKU. A birth defect is a health condition that is present in a baby at birth. Sometimes it can cause birth defects or other health conditions. Sometimes a gene change can cause a gene to not work correctly. Parents can pass gene changes to their children. This is called a gene change or a mutation. Sometimes the instructions in genes change. Genes come in pairs-you get one of each pair from each parent. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. This means it’s passed from parent to child through genes. But it’s more common in white, American Indian or Alaska Native people than in Black, Ashkenazi Jewish or Japanese people. The illness happens in all ethnic groups. In the United States, about 1 in 10,000 to 15,000 babies is born with PKU each year. Without treatment, phenylalanine builds up in the blood and causes health problems. Amino acids help build protein in your body. Phenylketonuria (also called PKU) is a condition in which your body can’t break down an amino acid called phenylalanine.
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