Phenylketonuria is a common autosomal recessive genetic disorder pku guidelines caused by an enzyme defect in the phenylalanine metabolic pathway.
Phenylketonuria is normal at birth with no significant neonatal symptoms. Some children may have non-specific symptoms such as feeding difficulties and irritable vomiting.
Untreated children after 3 to 4 months of age gradually exhibit intellectual, motor, and posterior development, with hair that ranges from black to yellow and white skin. There is a distinctive ratty odor to the whole body and urine, and frequent eczema.
Phenylketonuria patients have a lack of enzymes in the liver to break down proteins. Therefore, the rice, noodles and meat that normal people eat three meals a day are all poisons for people with phenylketonuria.
Phenylketonuria is a genetic metabolic disorder that can be treated with dietary control.
Natural foods contain a certain amount of phenylalanine, and a low-protein diet can lead to malnutrition; only a low-protein diet treats phenylalanine.
Can prenatal screening detect phenylketonuria?
Phenylketonuria can be detected through maternity testing and is now a routine screening test for newborns in obstetrics.