phenylketonuria

English name : phenylketonuria
Alias: phenylketonuria ; phenylalanine hydroxylase deficiency ; phenylalanine hydroxylase deficiency ; phenylalanine hydroxylase deficiency
Overview :
Urine that is phenylketonuria phenylketonuria (phenylketonuria, PKU) is due to phenylalanine metabolic pathway , the enzyme defect caused by the more common autosomal recessive genetic disease, the earliest in 1934 found that patients due Foiling urine contains a lot of phenylketonuria named. 1947 Jervis phenylalanine load the patient experiments reveal the biochemical basis of PKU incidence of liver phenylalanine metabolism. In 1953, the German Bickel first reported side with a low phenylalanine milk PKU patient treatment to be successful . 1963 G. .. [ Detail ... ]
Etiology:
The disease is an autosomal recessive genetic disease , the Department of phenylalanine metabolic pathway enzyme deficiencies.
Clinical manifestations:
Most children appear normal at birth , neonatal period no specific clinical symptoms, some patients may be feeding difficulties , vomiting , irritability and other non -specific symptoms . Untreated children 3 to 4 months after gradually showing intelligence, sports retardation, hair from black to yellow , white skin , body odor and urine with special mouse , often eczema. With age, children with mental retardation became increasingly obvious that about 60% of older children with severe mental retardation . 2 /3 of children with mild neurological signs , such as increased muscle tone, tendon hyperreflexia , microcephaly , severe cases may have cerebral palsy . About 1/4 of children with seizures ... [ Detail ... ]
Treatment:
1 PKU is the first principle of treatment can be controlled through diet therapy of inherited metabolic diseases . Inclusive of a certain amount of natural food phenylalanine, low-protein diet will lead to malnutrition, so use low- phenylalanine diet therapy , such as the production of China on the 2nd Shanghai or other similar products , the treatment principles are as follows :
( 1 ) Early Treatment: Once diagnosed , should be treated immediately . The younger the start of treatment , the better the prognosis , smart development close to normal . Late treatment have varying degrees of mental retardation . 3 to 5 years after treatment, may reduce seizures and behavioral abnormalities ... [ Detail ... ]
Prognosis:
Avoid relatives married. Marriage should be between a heterozygote . Conduct newborn screening for the early detection PKU sick children , early initiation of treatment to prevent the occurrence of mental retardation. For high-risk family , do prenatal diagnosis to decide whether to make selective abortion . There is a family history of the disease on the couple must use DNA analysis or detection methods such as amniotic fluid neopterin their fetuses for prenatal diagnosis.