JIMD reportsPub Date : 2026-05-18eCollection Date: 2026-05-01DOI: 10.1002/jmd2.70090
Victor Andrès Valle, Arnaud Wiedemnan, Eva Feigerlova, David Coelho, Elise Jeannesson, Irina Rotaru, Marc Merten, Alexandre Raharimanana, François Feillet, Jean-Marie Ravel
{"title":"High-Dose L-Serine Supplementation During Febrile Decompensation in <i>SARS1</i> Deficiency: A Case Report and Review of the Literature.","authors":"Victor Andrès Valle, Arnaud Wiedemnan, Eva Feigerlova, David Coelho, Elise Jeannesson, Irina Rotaru, Marc Merten, Alexandre Raharimanana, François Feillet, Jean-Marie Ravel","doi":"10.1002/jmd2.70090","DOIUrl":"10.1002/jmd2.70090","url":null,"abstract":"<p><p>Seryl-tRNA synthetase 1 (<i>SARS1</i>) deficiency is a rare autosomal recessive disorder presenting with neurodevelopmental delay, deafness, cardiomyopathy, and fatal metabolic decompensation triggered by febrile episodes. While amino acid chronic supplementation is established, no guidelines exist for acute management. We report the case of a 9-year-old male of Turkish origin with genetically confirmed <i>SARS1</i> deficiency, admitted with fever, vomiting, hypotonia, and seizures. The clinical course rapidly progressed to metabolic decompensation and severe acute cardiac failure, characterised by a left ventricular ejection fraction of 20%, necessitating mechanical ventilation and vasopressor support. Notably, the patient's family history included the death of three siblings during similar febrile episodes. During hospitalisation, the patient's specific L-serine supplementation dosage was progressively tripled concurrently with standard supportive care. Unlike the fatal outcomes observed in his siblings, untreated by L-serine, the patient survived and recovered following this high-dose regimen. Cardiac biomarkers normalised within 20 days, and follow-up echocardiography at 1 month demonstrated complete resolution of myocardial oedema. However, a year later, the patient presented with another febrile crisis at 10 years old, and despite an emergency protocol, the patient developed severe biventricular dysfunction progressing to fatal cardiogenic shock. This constitutes the first documented survival of a SARS1-related metabolic crisis managed with high-dose L-serine. The findings strongly suggest that early, aggressive escalation of L-serine dosage can be a viable therapeutic strategy for acute decompensation in SARS1 deficiency.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"67 ","pages":"e70090"},"PeriodicalIF":1.8,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13181329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JIMD reportsPub Date : 2026-05-15eCollection Date: 2026-05-01DOI: 10.1002/jmd2.70048
Sarah J Firman, Jennifer Cook, Imogen Hall, Katie Yeung, Raphael Buttigieg, Fiona Vaz, Anthony S Wierzbicki, Radha Ramachandran
{"title":"Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions.","authors":"Sarah J Firman, Jennifer Cook, Imogen Hall, Katie Yeung, Raphael Buttigieg, Fiona Vaz, Anthony S Wierzbicki, Radha Ramachandran","doi":"10.1002/jmd2.70048","DOIUrl":"10.1002/jmd2.70048","url":null,"abstract":"<p><p>Adult Refsum disease (ARD, OMIM #266510) is an autosomal recessive condition, resulting in phytanic acid (PA) accumulation in plasma and tissue. The management of ARD relies on a low PA diet, but the importance of adequate energy and carbohydrate provision in reducing circulating PA levels and preventing metabolic crisis is less well described. Two patients recently diagnosed with ARD initiated on the low PA diet leading to a 65% reduction in circulating PA levels, one case achieving this reduction in 5 months. Four patients already established on the low PA diet for > 10 years experienced a rapid rise in circulating PA levels due to weight loss and/or inadequate carbohydrate intakes, despite adherence to a low PA diet. Circulating PA levels more than doubled in all four of these cases. Implementing dietary interventions to ensure adequate energy, carbohydrates and weight stabilisation resulted in a decrease in circulating PA levels by 47%-84% in the outpatient setting. The reduction in circulating PA occurred within 1.6-5 months. These cases demonstrate that PA restriction, and weight and carbohydrate management have integral roles in ensuring metabolic stability in ARD. This case series highlights that circulating PA levels can be reduced more rapidly with dietary interventions than previously shown in case series of chronic management.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"67 ","pages":"e70048"},"PeriodicalIF":1.8,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13176777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147963700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JIMD reportsPub Date : 2026-05-08eCollection Date: 2026-05-01DOI: 10.1002/jmd2.70093
Nora Mickelsson, Jussi Hirvonen, Mika H Martikainen
{"title":"Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study.","authors":"Nora Mickelsson, Jussi Hirvonen, Mika H Martikainen","doi":"10.1002/jmd2.70093","DOIUrl":"10.1002/jmd2.70093","url":null,"abstract":"<p><p>Primary mitochondrial diseases frequently affect the central nervous system, yet the extent, distribution and progression of white matter hyperintensities (WMHs) remain insufficiently characterised, particularly in terms of quantitative volumetrics and longitudinal progression. Although WMHs are typically attributed to cerebral small-vessel disease, mitochondrial disorders may cause white matter injury through distinct vascular and metabolic mechanisms. We conducted a retrospective single-centre study at Turku University Hospital including 36 patients with mitochondrial disease, each with at least one brain MRI (73 images). Longitudinal data were available for 15 patients. Three-dimensional T1-weighted and FLAIR images (1.5/3 T) were analysed with the FDA-cleared cNeuro tool to obtain intracranial volume-normalised WMH and lesion volumes and an automated global Fazekas score. At baseline (median age 49 years), WMHs were present in all supratentorial regions. Over time, WMH volumes increased significantly in periventricular, deep and juxtacortical regions, while lesion progression was predominantly periventricular. Fazekas scores remained generally low and stable. In follow-up imaging, women and patients carrying the m.3243A>G variant showed a greater burden of WMHs and lesions, compared with men and those with other mitochondrial diagnoses. WMH load did not differ according to history of stroke-like episodes. Mitochondrial disease is associated with early and progressive WMH accumulation, particularly in individuals with the m.3243A>G variant, and the pattern exceeds what would be expected from conventional vascular risk factors alone. These findings support a disease-specific mechanism of white matter vulnerability and highlight the importance of quantitative MRI for monitoring progression in mitochondrial disease.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"67 ","pages":"e70093"},"PeriodicalIF":1.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13156070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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