title: Stress-Induced Ketoacidosis in Spinal Muscular Atrophy: An Under-Recognized Complication.
abstract: Ketoacidosis is an important but under-recognized complication of neuromuscular disease, in particular spinal muscular atrophy. This easily treatable condition is largely overlooked in best practice guidelines, and lack of awareness contributes to adverse outcomes in this patient population. Neuromyopathy associated ketosis should be considered in all patients with severe muscle wasting presenting with an elevated anion gap metabolic ketoacidosis. Treatment is simple, effective, and should be instituted early. Our report of a 50-year-old patient with type 2 spinal muscular atrophy who presents with recurrent ketoacidosis aims to increase awareness of neuromyopathy associated ketosis as a clinical entity, and to enhance its early recognition and timely treatment in order to improve patient outcomes.
authors.forename: Eoin
authors.initials: E
authors.lastname: Mulroy
authors.forename: Sarah
authors.initials: S
authors.lastname: Gleeson
authors.forename: Michael James
authors.initials: MJ
authors.lastname: Furlong
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D005947:Glucose / Q000627:therapeutic use; D006801:Humans; D007003:Hypoglycemia / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D007662:Ketosis / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000378:metabolism*; D013312:Stress, Physiological; D014552:Urinary Tract Infections / Q000150:complications / Q000188:drug therapy
chemical_list: D000900:Anti-Bacterial Agents; D005947:Glucose
keywords: Myopathy; acid-base equilibrium; acidosis; ketosis; muscular atrophy; spinal