There is no generally accepted therapy for DLD-deficiency. Currently only a rather empirical approach, based on dietary restrictions, vitamin and antioxidant supplementation, is possible to try improving the symptoms; ketogenic/high-fat diet, thiamine, riboflavin and/or lipoic acid supplementations proved hitherto to be beneficial to some of the patients. In case of hyperleucinosis, restriction of branched-chain amino acids is to be considered. Administration of the PDH kinase inhibitor dichloroacetate leads to a decrease in the lactic acid level in 4 out of 5 patients, however, its elongated administration may result in polyneuropathy.
Medical intervention is inevitable during acute episodes; management of the life-threatening acute metabolic decompensation is of utmost importance. Severe metabolic (lactic) acidosis can be addressed with bicarbonate infusion and by increasing calorie intake to reverse the catabolic state; glucose administration also aims at maintaining normoglycemia. Glucose infusion together with insulin helps suppress the breakdown of body proteins, hence can improve hyperammonemia, as well. Severe hyperammonemia may be addressed by hemodialysis.
DLD