Classic phenylketonuria symptoms?

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. Now let's talk about the classic symptoms of phenylketonuria?

Classic phenylketonuria symptoms?

The main performance is the growth retardation, the physical growth retardation is mainly manifested as short stature, malnutrition, in addition, it can also be manifested as mental retardation, which is also the most obvious feature of phenylketonuria baby, after birth 4-9 months 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

So, for disease. We should strengthen the awareness of disease prevention. If you want to exercise more, you must have a good living habits and eating habits. But also pay attention to their own personal hygiene. Alas, only by strengthening the understanding of diseases can we prevent diseases. Therefore, generally speaking, I still need to pay attention to this kind of situation.