CLINICAL APPROACH TO INHERITED METABOLIC DISEASES IN THE NEONATAL AND INFANTILE PERIOD

A 20-YEAR EXPERIENCE

Abstract

Every neonate and infant with unexplained neurological deterioration, respiratory distress, failure to thrive, metabolic acidosis, hypoglycemia, liver dysfunction should be suspected of having an inherited error of intermediary metabolism. Since a number of these diseases respond well to treatment, rapid diagnosis and treatment are mandatory.
Adequate prenatal diagnosis and genetic counselling are necessary in case of fatal diseases. Clinical and laboratory results over 20-year period are presented.