Is neonatal phenylketonuria symptomatic?

summary

Phenylketonuria is a metabolic disease, and this metabolic abnormality is related to the enzyme deficiency in phenylalanine metabolic pathway. Due to the enzyme deficiency, phenylalanine can not be converted, resulting in the accumulation of phenylalanine and its ketoacid, causing symptoms of various systems in the body. For this disease, there is no cure drug in clinic. The best way is to find it early and treat it as soon as possible. The earlier treatment, the better prognosis. Neonatal phenylketonuria symptoms now talk to you.

Is neonatal phenylketonuria symptomatic?

Growth and development: the main performance for growth and development retardation, physical growth and development retardation mainly for short stature, malnutrition, in addition, can also be manifested as mental retardation, which is also the most obvious feature of phenylketonuria baby, 4-9 months after birth can appear obvious IQ lower than normal children of the same age, due to the language development.

Mental and neurological symptoms: due to the growth retardation of the brain, many children's brain tissue has cerebellar malformation due to atrophy, so that children have repeated seizures, increased muscle tension, knee tendon reflex, Achilles tendon reflex hyperactivity, mental state is often excited, restless, hyperactive or sleepy and other abnormal behavior.

Skin and hair performance: because children's skin is very easy to dry, so children often scratch scratch appear scratches, long-term so prone to eczema; In addition, due to the deficiency of enzyme in children's body, patients accumulate a large amount of phenylalanine. Phenylalanine can inhibit tyrosinase and reduce melanin synthesis, so children's hair is pale and brown.

matters needing attention

If parents find that their baby has the above symptoms, they should seek medical treatment as soon as possible, and strive for early detection and early treatment, so as to achieve better therapeutic effect. In addition to drug treatment, the main treatment for this disease is to reduce the source of phenylalanine and relieve the symptoms of patients through low phenylalanine diet.