We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid. The disorder has a high incidence of 1 in 1700 in the Faroe Islands due to a founder effect, and a carrier frequency of 1 in 33. The symptoms comprise hypotonia, muscle atrophy, hyperkinesia, severe hearing impairment and postnatal growth retardation. Neuroimaging showed demyelination and central and cortical atrophy, including atrophy of the basal ganglia, and some of the patients fulfilled the criteria for Leigh syndrome. Urine and plasma methylmalonic acid were elevated. Homozygosity mapping with the Affymetrix 10 K array revealed a homozygous region on chromosome 13q14 harbouring the SUCLA2 gene. Mutations in SUCLA2 were recently shown to cause a similar disorder in a small Israeli family. Mutation analysis identified a novel splice site mutation in SUCLA2, IVS4 + 1G --> A, leading to skipping of exon 4. The SUCLA2 gene encodes the ATP-forming beta subunit of the Krebs cycle enzyme succinyl-CoA ligase. The hallmark of the condition, elevated methylmalonic acid, can be explained by an accumulation of the substrate of the enzyme, succinyl-CoA, which in turn leads to elevated methylmalonic acid, because the conversion of methylmalonyl-CoA to succinyl-CoA is inhibited.

Aim: Abdominal pain is a frequent reason for paediatric emergency department visits, but specific research is lacking. Our aim was to obtain information on the diagnosis of abdominal pain and what healthcare services children with this condition need. Methods: This retrospective study focused on patients visiting the emergency department of the Children's Hospital Iceland in 2010 with abdominal pain and any subsequent visits up to 1 January 2015.Results: There were 11 340 visits to the emergency department in 2010 and 1118 children made 1414 (12%) visits due to abdominal pain. The majority (58%) with abdominal pain were girls (p < 0.001) and they were older than the boys, with an average age of 12 versus 10 years (p < 0.001). The most common diagnoses were non-specific abdominal pain (40%), constipation (22%) and viral infections (13%). During the followup period, 423/1118 children (38%) visited the emergency department 883 times, 58% were girls and the most common diagnosis was non-specific abdominal pain (37%). Of the 436 children initially diagnosed with non-specific abdominal pain, 154 (35%) revisited the emergency department during the follow-up period.Conclusion: Abdominal pain was a common reason for visits to the paediatric emergency room and a third paid more than one visit.