Abstract
In patients with propionic acidaemia (PA) and methylmalonic acidaemia (MMA) the increased concentration of propionyl-CoA in cells leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFA) in body lipids. During a period of 5 years we used the OLCFA content in erythrocyte membranes for long-term metabolic control in 5 patients with PA. The determination of OLCFA in erythrocyte membrane lipids was done by capillary column gas liquid chromatography and the sums of the individual OLCFA- C15:0, C17:0 and C17:1- were calculated and expressed as a percentage of the total C14-C22 fatty acids. In 3 patients OLCFA are usually below 1.9% indicating a good metabolic control. In one patient, metabolic control is fair (OLCFA < 3.1%) and one neonate with severe course of PA showed a decrease of OLCFA with age and an increase during metabolic decompensation before death. In general, during acute metabolic crisis we only found an elevation of propionic acid in plasma. After crisis there was a delayed increase of OLCFA. In one patient a decrease of OLCFA could be seen after therapy with metronidazole. OLCFA seem to be a valuable parameter for long-term metabolic control in patients with PA.
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