[Severe metabolic diseases in neonates. Diagnosis and treatment (author's transl)].
Life-threatening diseases in the newborn period might be due to rare inborn errors of metabolism. Clincal symptoms, diagnostic approach and therapy are outlined in some inherited diseases of amino acid-, carbohydrate and organic acid metabolism. A proposual for initial management in a suspected case is made.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000628:therapy; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008722:Methods; D011296:Prenatal Diagnosis
Lebensbedrohliche Stoffwechselerkrankungen im Neugeborenenalter. Diagnostische und therapeutische Hinweise