Four major hazards of phenylketonuria to the human body

Phenylketonuria is a disease that is very harmful to children's health. However, many people do not pay attention to this disease because the children with the disease are young and cannot see the harm. As a result, it has caused very serious consequences. So today we will tell you about the four major harms of phenylketonuria to the human body!

First, let's take a look at what phenylketonuria is:

Phenylketonuria is a common amino acid metabolism disease. It is caused by enzyme defects in the phenylalanine metabolic pathway, which prevents phenylalanine from being converted into tyrosine, resulting in the accumulation of phenylalanine and its ketoacids, which are excreted in large quantities from the urine. This disease is relatively common among hereditary amino acid metabolism deficiency diseases, and its inheritance is autosomal recessive.

So what harm does this disease do to the human body? Let's continue to look down:

One of the hazards of phenylketonuria is growth retardation. In addition to physical growth retardation, it is mainly manifested in intellectual retardation. It is manifested in an IQ lower than that of normal children of the same age, which can appear 4 to 9 months after birth. In severe cases, the IQ is lower than 50, and language development disorders are particularly obvious. These manifestations indicate brain development disorders.

The second hazard of phenylketonuria: neuropsychiatric manifestations, cerebellar malformation due to brain atrophy, recurrent convulsions, but they are alleviated with age. Increased muscle tension, hyperreflexia. Often there is excitement, hyperactivity and abnormal behavior.

The third hazard of phenylketonuria: Skin and hair manifestations: The skin is often dry, prone to eczema and skin scratches. Because tyrosinase is inhibited, melanin synthesis is reduced, so the hair color of the child is light and brown.

The fourth hazard of phenylketonuria: Others, due to the lack of phenylalanine hydroxylase, phenylalanine produces increased phenyllactic acid and phenylacetic acid from another pathway, which are excreted from sweat and urine with a musty odor (or rat odor).

The above are the four major hazards of phenylketonuria. I hope everyone can have a correct understanding of this disease and never let their carelessness affect their children’s lives.