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Abstract Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population‐based, retrospective study using demographic, clinical, and genetic data of patients with genetically confirmed POLG disease. The patients were diagnosed between 2002 and 2022, and were included into the Norwegian POLG Patient Registry. Patients were stratified according to age at disease onset (early

Summary: Background: There are few assessments of nutritional care needs of children and adolescents with spinal muscular atrophy (SMA) after disease-modifying treatments became available. Aims: To assess nutritional status, dietary intake and feeding difficulties in children and adolescents with SMA II and SMA III on treatment with nusinersen, and to explore possible associations between feeding difficulties and dietary intake. Methods: Nutritional status was assessed by anthropometric measures and blood samples from annual follow-up appointments over a three-year period. Three 24-hour dietary recalls by phone were used to assess dietary intake. Feeding difficulties were assessed by the Egen Klassifikation- 2 scale. Results: This study included 20 participants with SMA II with a median age of 7.0 (Q1 2.0; Q3 12.9) years and 20 participants with SMA III with a median age of 8.4 (Q1 4.3; Q3 12.2) years. Adequate intake of iron and vitamin D was dependent on use of supplementation. Iron deficiency was implied in 17.5 %, whereas vitamin D deficiency was documented in 5 % and vitamin D insufficiency in 37.5 % of the total SMA cohort. Growth failure with small mean decrease in height-for-age z-score over time was observed in both subgroups, however only significant in the SMA II group (P=0.02). Feeding difficulties were associated with reduced intake of protein -4.6 grams per day, 95 % CI [-7.3; -1.8], P=0.002. Conclusions: Systematic monitoring of nutritional status continues to be important in pediatric patients with SMA II and SMA III on disease-modifying treatment. Attention in clinical care should be on prevention and treatment of nutritional deficits, with emphasis on iron and vitamin D status and adequate protein intake in persons with feeding difficulties.

Abstract Mitochondrial trifunctional protein (MTP) deficiency is an ultrarare hereditary recessive disorder causing a broad spectrum of phenotypes with lethal infantile cardiomyopathy at the most severe end. Attenuated forms with polyneuropathy have been reported combined with myoglobinuria or rhabdomyolysis as key features. We here report three young adults (two siblings) in which three variants in the HADHB‐gene were identified. All three cases had a similar mild phenotype with axonal neuropathy and frequent intermittent weakness episodes but without myoglobinuria. Special dietary precautions were recommended to minimize complications especially during infections and other catabolic states. MTP deficiency is therefore an important differential diagnosis in patients with milder fluctuating neuromuscular symptoms. Take‐home message Axonal neuropathy and recurrent muscular weakness without concomitant rhabdomyolysis may be due to MTP deficiency.