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Phenylketonuria is an autosomal recessive genetic disease, and the patient may need lifelong treatment for the patient

pku handbook

First, there are several types of phenylketonuria, and detailed tests are needed to diagnose the condition

1. Classic phenylketonuria

The blood phenylalanine concentration is greater than pku handbook 200mg/L, and the phenylalanine hydroxylase activity is 0% to 4.4% of the normal person. After 3 months of life, there will be mental retardation and language retardation, which will increase with age. Patients will have different degrees of mental retardation, of which 60% are severely low. About 1/4 of the patients will have epilepsy, the hair, skin color, urine and sweat will have the smell of mice, and will be accompanied by abnormal mental behavior.

2. Transient phenylketonuria

A small number of newborns or premature infants develop this symptom, possibly due to developmental delay in pah.

3. Hyperphenylalaninemia

The blood phenylalanine concentration is usually between 20~200mgu002FL, the enzyme activity is 1.5%~34.5% of the normal person, the clinical symptoms are mild or none, the response to treatment is relatively good, and most of them have no obvious mental development. Hysteresis symptoms.

4. Tetrahydrobiopterin deficiency

Also known as non-classical phenylketonuria, or malignant phenylketonuria, it is caused by a deficiency of the phenylalanine hydroxylase coenzyme tetrahydrobiopterin, with neurological symptoms in addition to the typical phenylketonuria manifestations More prominent, such as decreased trunk muscle tone, involuntary movements, and intractable epilepsy.

First, phenylketonuria will have abnormal symptoms, mainly mental retardation, other symptoms include these

(1) Symptoms

Phenylketonuria mainly presents symptoms of mental retardation, such as black and yellow hair, fair skin, eczema, etc. There will be more phenylacetic acid in the urine and sweat discharged by the patient, so there will be a rat urine smell in the urine, and the patient will have complications such as mental retardation, cerebellar atrophy, and epilepsy. The patient will appear normal in the neonatal period, and will develop abnormal symptoms after 6 months, which will gradually worsen. If not controlled and treated in time, it will cause harm to the central nervous system of patients.

(2) Typical symptoms

1. Changes in growth and development

In addition to physical growth retardation, the main clinical symptoms of patients are mental retardation, especially for students with language developmental disabilities. The performance of the patients is relatively normal in the neonatal period, and symptoms will appear after 6 months, and will gradually develop. If we do not get timely and effective control and treatment by the enterprise, it will bring a great impact and damage to the management of the patient's central nervous network system, and even continue to develop into severe or moderate intellectual abnormalities. The addition of complementary foods continues to increase and increase, and mental retardation will continue to deteriorate during childhood in China, and will gradually stabilize after the brain matures.