New born screening is carried out between the ages of 4 days and 4 months with a few drops blood collected from the baby. This helps identify diseases prior to their manifestation in the child. Some of these can be treated / managed and the devastating symptoms are prevented. Many of these are inherited in autosomal recessive pattern hence both parents have to be carriers for the specific gene (link to Inheritance). All inborn errors of metabolism come in this category. Some of these can be currently treated by special diets or enzyme replacement therapies.
Incase a child is identified with IEM or any autosomal recessive condition, other family members can be recommended for carrier testing – extended family screening.
Genetic counselling provides assessment, diagnosis, management and counselling for new borns, children, adults and their families with suspected or confirmed inborn errors of metabolism (metabolic diseases)