The causes and symptoms of phenylketonuria
Is simple, phenylketonuria is the patient's urine, phenylketonuria, that is, patients unable to metabolism of phenylalanine , Phenylketonuria is an autosomal defects in genetic diseases. Mainly due to the in vivo phenylalanine (phenylalanine; Phe) hydroxylation (hydroxylation) into tyrosine metabolic pathways machine barrier caused by congenital metabolic disorders. Fortunately, this disease is a recessive genetic, must be parents with this gene will occur.
Currently there are five different enzyme deficiency caused by such metabolism. Impaired; phenylalanine hydroxylation enzyme (PAH) deficiency can cause the most common typical phenylketonuria. The clinical symptoms of the hair to show yellow, pale skin, and dry and the aftermath of the smart disabilities. According to the report of the literature, the results of the domestic screening 80 70000 newborns, PKU incidence of approximately 1/34000, of which only about 70 to 80 percent of patients with typical phenylketonuria.
The Phenylketonuria the treatment
Because the disease caused by the brain damage is progressive, so newborn infants asymptomatic, about 3 to 4 months or so the symptoms will slowly appear. Its symptoms are vomiting, skin, hair color fades, eczema, growth retardation, musty odor of urine and body sweat, seizure, trembling and other abnormal movements. If this only the start of treatment, brain nerve has caused irreparable damage.
Therefore, to prevent the incidence of complications of PKU, or the same as the earlier the treatment the better. According to foreign reports in the literature, patients treated within one month, the average IQ of 95, if treated in the neonatal period, their IQ can reach the normal standard.
Typical with PKU (phenylalanine hydroxylation enzyme deficiency): given the low amphetamine-acid diet, amphetamine acid content in the blood is maintained at 4-8mg/dL, but must also consider the nutritional balance of protein, calories, etc., in order to maintain patients the normal growth. The diet is the longer the better, to maintain at least six years old. Female cases should be continued until after the child-bearing age to prevent future occurrence of maternal phenylketonuria (maternal PKU), resulting in the produce of the next generation of congenital disabled children.
Diet said foods containing phenylalanine too much food, not eat protein-containing foods, phenylalanine, but almost in the nature are very high, such as: eggs, meat, fish, beans, etc., with the amount of phenylalanine are very high, so neither eat these things. Even the most basic food of rice, flour, etc., also contain considerable phenylalanine, these children their intake must also be limited, there is a low-protein rice must be imported from abroad, but the price is very high, about the general meters and more than 10 times the average family can afford, called on the government should introduce planting.
Recognition and differential diagnosis of phenylketonuria
Newborn screening is to provide the best way of early diagnosis of PKU, China since 1984, screening Prior to this, many patients were misdiagnosed as cerebral palsy, and was housed in the mental retardation institutions failed to receive appropriate treatment, a great pity.
Differential to determine the method is quite complex, refer to Cipian article .
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