LCHADD is a rare life-threatening genetic disorder present from birth. It stands for “long chain 3-hydroxyacyl-CoA dehydrogenase deficiency”. In LCHADD, the body is unable to break down long chain fats from food eaten into energy for the body. Patients also have problems breaking down fats already stored in the body.
Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep. In LCHADD, however, the body cannot break down fat for energy. Instead, it must rely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycaemia and to the build up of harmful substances in the blood which affects the liver and muscles.
At present, the treatment for LCHADD, is a fat restricted diet for life and taking regular dietary supplements which contain medium chain fats, vitamins, minerals and essential fats. People with LCHADD need to eat carbohydrate foods frequently to avoid metabolising fat stores. Tube feeding may be recommended in early infancy and childhood. Patients may also be recommended to take uncooked cornflour or another long acting starch called Glycosade to allow them to fast for longer. Each patient will have an individualised plan that is developed by the Doctors and Dietitians when well.
During times of illness and fasting, the body will break down its own fat stores to provide energy (catabolism). This can be dangerous for people with LCHADD as levels of certain fats and other harmful substances will increase quickly. Patients will have an individualised emergency plan to use when they are unwell.
At NCIMD, we have been treating patients with LCHADD for a number of decades and have significant experience of managing this disorder. Patients with LCHADD are managed by the multidisciplinary team and we liaise closely with the Metabolic Laboratory to ensure close monitoring of these patients. We follow international best practise guidelines and we have also presented our experience of management of LCHADD at various international conferences.
Fat Exchange List 2015