Mitochondrial disease and other inborn errors of metabolism compromise energy metabolism and often require special nutritional therapies. In addition, children with these disorders frequently have difficulties with the neuromuscular coordination necessary for drinking, eating, digestion and defecation.
Several forms of nutritional therapy are suitable for children with mitochondrial disease. If a child cannot tolerate oral feedings, he or she may still receive enteral feedings -- feedings directly into the gastrointestinal tract. This is done via tubes placed temporarily through the nose (nasogastric or nasojejunal) or more permanently into the stomach (gastrostomy) or intestine (jejunostomy). If a child has a poorly functioning gastrointestinal tract, he or she may need total parenteral nutrition (TPN) via a catheter into a large central vein near the heart
I reserve TPN for very special patients: youngsters with intractable nausea, retching, vomiting or diarrhea that interferes with growth and those with acute complications of their disease -- e.g. acute hypoglycemia, lactic acidosis, hyperammonemia -- in spite of continuous enteral feedings.
THE TPN TEAM
The team approach to TPN involves a skilled pediatric surgeon who places the central vein catheter (Broviac) under anesthesia, as well as a gastroenterologist, nurse practitioner and nutritionist who prescribe, supervise, and monitor the nutritional regimen for the neurologist. A TPN pharmacist will compound special additives (e.g. vitamins, minerals, cofactors, etc.) and monitor drug and additive compatibility, working with a homecare program to provide the solutions, supplies and equipment. The central team member is the parent, who is taught how to change his child's sterile dressings, to inspect and administer TPN solution, and to detect signs of catheter malfunction and other complications.
The first nutritional goal in the management of children with mitochondrial disease is to improve metabolic balance. Hypoglycemia, lactic acidosis and hyperammonemia are examples of metabolic imbalances secondary to mitochondrial disease and will cause further injury (e.g. cerebral edema, muscle weakness). Frequent enteral feeding, when feasible, or TPN provides a reliable glucose supply to all organs, as well as protein and fat, vitamins, minerals and electrolytes.
Nutritional cofactor therapy commonly includes L-carnitine and may also include the B-complex of vitamins (thiamine, riboflavin, pyridoxine, niacin, pantothenic acid, biotin, cobalamin and folic acid), vitamin C and fat-soluble vitamins A, D, E, K in different combinations. …