Phenylketonuria symptoms?

summary

Phenylketonuria is a treatable genetic metabolic disease, early treatment effect is better, and through neonatal disease screening, do pre onset diagnosis, timely treatment, prevention of disease. So we need to understand the symptoms of phenylketonuria.

Phenylketonuria symptoms?

Appearance: a few months after birth, due to insufficient melanin synthesis, the color of hair, skin and iris became lighter.

Nervous system: in the early stage, there may be neurobehavioral abnormalities, such as restlessness, hyperactivity, drowsiness and malaise. A few of them have increased muscle tension, tendon hyperreflexia and convulsion (about 25%), followed by the increasingly obvious mental retardation, and 80% of them have abnormal EEG.

Due to the excretion of phenylacetic acid in urine and sweat, it has a special odor of rat urine. For screening of older infants and children. If there is a green reaction immediately, it is positive, indicating that the concentration of phenylalanine in urine is increased. In addition, dinitrophenylhydrazine test can also detect phenylalanine in urine, and yellow precipitation is positive.

matters needing attention

For couples with family history of the disease, DNA analysis or detection of pterin in amniotic fluid should be used for prenatal diagnosis.