Body Parts: Whole Body
Medical Subjects: Children's Health Nervous System

What Kind Of Disease Is Hyperphenylalaninemia?

It is the most common amino acid metabolism disease, which can cause children's mental retardation. It is the first treatable and preventable genetic disease in medical history. Heel blood can be used to detect this disease after birth. Phenylketonuria is a type of hyperphenylalanineemia.

Who are the common people with hyperphenylalaninemia?

It is common in newborns with family genetic history.


What Causes Hyperphenylalanineemia?

This is an autosomal recessive inherited disease caused by mutations in disease-causing genes. It is divided into two categories according to the different enzymes affected: Phenylalanine hydroxylase (PAH) deficiency and tetrahydrobiopterin (BH4) deficiency.


What Are The Main Symptoms And Manifestations Of Patients With Hyperphenylalanineemia?

Different types have different clinical manifestations. Symptoms gradually appear after 3 to 4 months of birth. The skin color becomes lighter and lighter, the hair color becomes yellow, and sweat and urine have a rat smell. With age, mental retardation, microcephaly, and saliva increase, which may be accompanied by seizures, abnormal behavior and personality.

BH4 deficiency can also manifest as dyskinesia, dystonia and so on.


How Is Hyperphenylalaninemia Diagnosed?

According to the significant increase in blood phenylalanine concentration and the ratio of phenylalanine to tyrosine greater than 2.0, the diagnosis can be confirmed after differential diagnosis. Genetic testing found that genetic mutations can not only confirm the diagnosis, but also determine the type of hyperphenylalanineemia.


How Should Hyperphenylalanineemia Be Prevented?

This disease is preventable and curable, and the focus is on prevention, avoiding close relatives getting married, and timely newborn screening, early diagnosis and early treatment.

Related genetic testing can be performed before giving birth if there is a clear family history.

Avoid foods high in phenylalanine such as meat, fish, and soy products.


How Is Hyperphenylalaninemia Treated?

The sooner the treatment, the better, and lifelong treatment is advocated. Individualized low-phenylalanine diet is still the main treatment at present. Phenylalanine is an essential amino acid, and blood concentration should be monitored regularly to prevent it from being too low. BH4 deficiency also needs to be supplemented with BH4 or levodopa replacement therapy.

What is the prognosis of hyperphenylalanineemia?

The prognosis is related to the severity of the disease, the sooner or later treatment, and compliance. Most of the mental and physical development can reach or close to the normal level, normal school, employment, marriage, and childbirth. A reasonable diet is the key to improving the prognosis.

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