ArticleJCEM case reports2025
Ketosis-prone Diabetes as a Presentation of New-onset Diabetes in a Patient With Spinal Muscular Atrophy Type III.
Article in JCEM case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Spinal muscular atrophy (SMA) is a genetic motor neuron disease that leads to reduced muscle mass and muscle weakness. Recent studies demonstrated that metabolic complications could develop as emerging complications among patients with SMA and long-term follow-up. Sarcopenia together with aberrant glucose and fatty acid metabolism can predispose those with SMA to develop diabetes and diabetic ketoacidosis. Here, we present a patient with SMA type III who presented with ketosis-prone diabetes as an initial presentation of diabetes. Pancreatic autoantibodies (anti-GAD and anti-IA2) and a monogenic diabetes genes panel revealed negative results. A polygenic risk score for type 2 diabetes revealed a low genetic risk for type 2 diabetes. After resolution of diabetic ketoacidosis, insulin therapy was successfully discontinued within 1 month after discharge and the patient has been treated with metformin in combination with thiazolidinedione. The possibility of metabolic abnormalities in patients with SMA should be considered among patients who live well into adulthood. Sarcopenia together with alterations in fatty acid and ketone metabolism could lead to ketosis-prone diabetes as an initial presentation of diabetes among patients with SMA.
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