Abstract Ref Number = APCP111
Principle of dietary in Inborn Errors of Metabolism
DR Sardjito Hospital, Faculty of Medicine UniversitasGadjahMada
Newborn screening is a preventive program for early detection of Inherited Metabolic Diseases (IMDs) in newborns. Dietary therapy, given as early as possible with special formula, is the main therapy in IMDs. Diet prescriptions for IMDs need to be individualized and consider each patient’s clinical condition, individual tolerances, metabolic stability, age, developmental ability and prognostic outcome.Many patients with IMD are at risk of acute metabolic decompensation, infections, poor appetite, surgery, trauma and protracted fasting not only at initial neonatal presentation but throughout life. Feeding problems, malnutrition and growth failure are also common complications of many IMD conditions.
The main forms of nutritional therapy are substrate reduction/removal, provision of conditionally essential or essential nutrient, provision of alternative energy substrate and avoidance of fasting.
The nutritional follow-up requires systematic assessment of nutrient intake, anthropometry, clinical signs of nutrient deficiency and biological biomarkers to detect subclinical micronutrient excess or deficiency. Good family and patient education is essential in ensuring successful dietary management. Careful monitoring of nutritional status is necessary in the chronic management of many of these disorders. The nutritional follow-up requires systematic assessment of nutrient intake, anthropometry, clinical signs of nutrient deficiency and biological biomarkers to detect subclinical micronutrient excess or deficiency.
For patients on protein-restrictive diets, biochemical monitoring of vitamin and mineral status is essential; including haemoglobin, iron, ferritin, zinc, selenium, vitamin D and vitamin B 12 at least annually in addition to quantitative plasma amino acids and pre-albumin. Attentive nutritional support with the provision of macronutrients and micronutrients to meet dietary reference values/requirements is essential with all diet therapy.
Diet therapy should be always customized to meet the specific needs of each IMD patient considering their disorder severity and dietary tolerance. Systematic and observant nutritional follow-up, with regular monitoring of biochemical control, is essential to avoid nutritional deficiencies and identify early signs of adherence issues. Early counteractive measures can improve diet quality, metabolic control and long-term outcome.