Phenelketonuria (also known as PKU) is a rare inherited condition, in which a baby is born without the ablility to break down the amino acid phenylalanine. Phenylalanine is a natural substance and is a building block of protein. While a certain amount of phenylalanine is essential for normal growth and development, too much phenylalanine in the brain causes damage. Phenylalanine is essential in the production of the non-essential amino acid: tyrosine.
PKU can only be contracted if both parents must pass on the defective gene for a baby to have it. This is also called an autosomal recessive trait. Phenlketonuria has serveral noticable symptons, such as head size is significantly small, jerking movement in the legs and arms, unusual positionings of hands, etc. Phenylalanine, also, plays a role in the bodys productions of melanin. Melanin is a pigment responsible for skin and hair color. Therefore, babies with PKU may also have a lighter toned hair or skin.Currently there is no cure for PKU but it can be managed with a special treatment that lowers the level of phenylalanine in the body. Working with a dietitan at a metabolic clinic can help you decided of your needed diet. According to Mayo Clinic Staff, if you are following a low- phenylalanine dier you should keep the amout of phenylalanien eaten daily. You can do this by using a food diary. There are also tons of credited websites you can go to for answers asd well.
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