Phenylketonuria is an autosomal recessive genetic disorder that requires lifelong treatment

There are several types of phenylketonuria and detailed tests are needed to pku guidelines diagnose the condition

1. Classic phenylketonuria

Phenylalanine concentration >200mg/L and phenylalanine hydroxylase activity is 0% to 4.4% of normal activity, and patients with Phenylketonuria in the neonatal period live with a clinical presentation that

The symptoms of delayed development and lagging language development are aggravated by increasing age, and patients will have varying degrees of low intelligence skills, as well as 60% of those who are severely depressed.

Patients with epilepsy will have epilepsy in about 1/4 of the patients, with hair, light skin color, and rat odor through urine and sweat, and will be accompanied by abnormal psycho-cultural behavior.

2, temporary phenylketonuria

It occurs in a very small number of newborns or premature infants and may be caused by delayed maturation of phenylalanine hydroxylase.

3、Hyperphenylalaninemia

The concentration of phenylalanine in the blood is usually between 20~200mg/L and the enzyme activity is 1.5%~34.5% of the normal human activity.

The clinical symptoms are mild or no clinical symptoms, the treatment response is good, and most of them have no obvious symptoms of low intelligence.

Tetrahydrogenated chatterboxamine deficiency

Phenylalanine hydroxylase coenzyme tetrahydrogenated biological chatterin deficiency causes patients to have some typical phenylketonuria manifestations, in addition to

The neurological symptoms are more prominent, such as decreasing trunk muscle tone, involuntary movements, and intractable seizures.