Teratogenic Phenylketonuria-related Embryopathy
Authors:
E. Seemanová
Authors‘ workplace:
Oddělení klinické genetiky Ústavu biologie a lékařské genetiky UK 2. LF, Praha
vedoucí MUDr. M. Havlovicová
Published in:
Čes-slov Pediat 2007; 62 (2): 108-110.
Category:
The current Case
Overview
Newborn screening of inborn errors of metabolism leads to the early diagnosis of autosomal recessive phenylketonuria and normal development of affected homozygotes due to dietary therapy. Patients with classic symptomatology of phenylketonuria are nowadays forty years old and older. The treated patients show normal mental development, are married and have children. The children of female patients develop normally if the women return to the strong low phenylalanine diet at least 3 months before the conception, and their serum level of phenylalanine is regularly controlled in pregnancy. The case of a boy with severe congenital microcephaly, etiology of which was recognized only at the age of 10 months, shows that teratogenic phenylketonuria-related embryopathy should be kept in mind, especially because it is fully preventable.
Key words:
congenital microcephaly, mental retardation, teratogenic embryopathy, phenylketonuria disorder of brain in heterozygote
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2007 Issue 2
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