What symptom does infantile phenylketonuria have?
summary
Phenylketonuria in children is a common autosomal recessive genetic disease caused by enzyme deficiency in phenylalanine metabolism pathway. Both parents have chromosomal defects but no symptoms. The incidence rate of children with consanguineous marriage is high. What symptom does infantile phenylketonuria have? Next, I'd like to share my views with you.
What symptom does infantile phenylketonuria have?
Some children may have non-specific symptoms such as feeding difficulties, vomiting and irritability. After 3-4 months, the untreated children gradually showed mental retardation, motor retardation, and developmental retardation. Their hair turned from black to yellow, and their skin turned white. The whole body and urine have a special rat odor, often eczema.
With the increase of age, mental retardation is more and more obvious in children. About 60% of the elderly children have serious mental retardation, and have mild neurological signs, such as increased muscle tension, tendon hyperreflexia, microcephaly and so on. Severe cases may have cerebral palsy. Children often have infantile spasmodic seizures, nodding seizures or other forms of seizures 18 months ago.
About 80% of the children had abnormal EEG, mainly epileptic discharge. After treatment, the concentration of pH in blood decreased and electroencephalogram improved significantly. PKU patients may also have some abnormal behavior and personality, such as depression, hyperactivity, inferiority complex, loneliness and so on.
matters needing attention
Avoid kinship marriage, heterozygotes should not be married. To carry out neonatal screening, early detection of PKU children, early treatment to prevent the occurrence of mental retardation. For high-risk families, prenatal diagnosis can be made to decide whether to make selective abortion. For couples with family history of the disease, DNA analysis or detection of pterin in amniotic fluid must be used for prenatal diagnosis.
