Ornithine transcarbamylase deficiency: hyperammonemic coma after drinking a special "body-building" protein-rich diet

Background. Ornithine transcarbamylase deficiency is an x-linked disorder o f the urea-cycle. With a prevalance of 1:14000 it is one of the most freque nt inborn errors of metabolism. Heterozygous females exposed to high protei n nutrition or protein catabolism, are faced with highly detrimental effect s throughout their lives. Case report. We report the case of an 11 year old girl who went into hypera mmonemic coma after drinking a special "body-building" protein-rich diet. T his eventually led to the diagnosis of a heterozygot ornithine transcarbamy lase deficiency. The neurologic outcome was poor despite therapy including hemodialysis. Conclusion. Especially in Eases with unexplained retardation or symptoms th e use of special diets can be hazardous and should be avoided. Hemodialysis should be started at an early stage, even in cases with moderate hyperammo nemia if other medical treatment has failed.