[Congenital metabolic diseases as a cause of acute illnesses in the neonatal period].
Inborn errors of metabolism occurring in the neonatal period both comprise diseases with clinical onset immediately after birth and diseases with clinical onset after a symptom free interval. Organ damage caused by inherited metabolic diseases can occur already in utero or--depending on oral food intake--during the first postnatal days. Unselective screening methods are applied in neonatal mass screening programs for the early detection of metabolic diseases. In cases of unspecific clinical symptoms selective screening procedures may provide an effective diagnostic tool. If a patient with suspected metabolic disease dies, body fluids and organ biopsies should be preserved for further investigations. The establishment of a genotypspecific (enzyme) diagnosis needs time and cost consuming biochemical procedures. It is a prior condition for prenatal diagnosis in further pregnancies.
Stöckler
S
S
Universitäts-Kinderklinik Graz.
Ipsiroglu
O S
OS
Paschke
E
E
D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors
Angeborene Stoffwechselerkrankungen als Ursache akuter Krankheitsbilder in der Neugeborenenperiode.