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Argininosuccinate lyase (ASL) deficiency (MIM 608310, McKusick 207900) is a rare disorder of the urea cycle, which leads to a deficiency of arginine and hyperammonemia. Epilepsy is a frequent complication of this disorder. A ketogenic diet (KD) can be a very effective therapy for refractory epilepsy, and it has been widely used in children. Until now, no experiences with the KD in patients with urea cycle defects have been reported.We present two cases of patients with ASL deficiency and refractory epilepsy who were treated with a KD. In both patients, the KD was initiated during a hospital admission and the fat percentage of the diet was increased to above 90% in five equal steps. In patient 1, during the KD the protein intake was continued as before, and in patient 2 the natural protein was increased with 0,2 g/kg/day while the protein from the amino acid supplement (UCD-2(®), Milupa) was decreased with 0,3 g/kg/day. During and after the introduction of the KD, all biochemical parameters reflecting urea cycle function and ammonia levels were stable in both patients and no signs of derangement were detected. On the KD, patient 1 demonstrated a reduction in seizure frequency of &gt;50%, and an increase in well-being. In patient 2, no effects of the KD on the seizure frequency were noted and after 6 months the KD was discontinued.Concluding, the KD does not cause metabolic derangement, is well tolerated, and can be effective in patients with ASL deficiency who are treated with a protein restriction.

The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy