pku handbook

Phenylketonuria (PKU) is an inherited pku handbook metabolic disease. In 1934, Norwegian physician Ivar Asbjorn Folling was the first to investigate the etiology of PKU by discovering and designing in detail. In his clinical application research, he found that there is a group of patients who often have an unpleasant smell in learning, especially for urine, which smells like mouse urine, usually including low levels of intellectual development. After analyzing a large amount of data that can be processed in the urine of these patients, the Norwegian doctor was able to find a large amount of chemical reaction substance phenylacetone from it, and confirmed that it was an autosomal recessive genetic metabolic disease. In 1937, the disease was officially named phenylketonuria, or PKU for short. At the same time, he also found an effective solution to avoid the embarrassment of PKU patients with low intellectual quality and to solve the Chinese solution-patients need to choose to avoid most of the food that we do not have normal people to eat.

Children with phenylketonuria cannot fully metabolize phenylalanine because they have a loss or deficiency of the enzyme in their body, and this amino acid is also found in almost all foods. If left untreated, phenylalanine can build up in the blood of sick newborns, causing brain damage and delayed neurological development.

Most children with PKU are normal at birth and develop the following symptoms after 3-4 months of untreated:

1. Growth and development: After 3 months, intelligence and growth and development lag and gradually increase with age. Those who were overweight had IQs below 50, and language development impairments were particularly pronounced.

2. Neural network system: About 25% of children with epilepsy have seizures, and 80% of children have abnormal EEG data.

3. Muscle tension, hyperreflexia. Frequent agitation, hyperactivity and abnormal mental behavior. Fur: ​​Most children are colored. Reduces elements such as brown or yellow hair, pale and greasy skin.

4. Other characteristics: urine and sweat have a special rodent odor, and the PAH activity of children is 0-4.4% of normal.

At present, there is no effective treatment for phenylketonuria, and patients can only consume special nutritional foods containing non- or low-phenylalanine ingredients as nutritional support to control the disease for life. Special food formulas are safe and effective food options for infants and young children. However, since l-phenylalanine is an essential amino acid for human growth and development, infants with phenylketonuria should take into account the individual's medical condition and body's tolerance to l-phenylalanine under the guidance of a physician ability, with a small amount of breast milk or ordinary infant formula in an appropriate amount to meet the growth and development needs of the baby.

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