title: Hypoglycaemia in spinal muscular atrophy.
abstract: Repeated episodes of hypoglycaemia were observed in two girls with spinal muscular atrophy. During a 12 h fast blood glucose fell to 3.4 and 2.7 mmol/L, respectively. One girl developed hypoglycaemia and ketonuria. Reduced gluconeogenesis was probably the cause of hypoglycaemia in these patients who had a muscle mass of about 10% of bodyweight (normal 30-40%). Hypoglycaemia must be suspected and treated when patients with severe muscle wasting due to chronic neuromuscular disorders are admitted comatose. In our experience this condition is often regarded as respiratory insufficiency.
authors.affiliation: Department of Infectious Diseases, Rigshospitalet, Copenhagen, Denmark.
authors.forename: A K
authors.initials: AK
authors.lastname: Bruce
authors.forename: E
authors.initials: E
authors.lastname: Jacobsen
authors.forename: H
authors.initials: H
authors.lastname: Dossing
authors.forename: J
authors.initials: J
authors.lastname: Kondrup
mesh_terms: D000293:Adolescent; D000328:Adult; D000409:Alanine / Q000097:blood; D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D005215:Fasting / Q000378:metabolism; D005260:Female; D005943:Gluconeogenesis; D005947:Glucose / Q000008:administration & dosage; D006801:Humans; D007003:Hypoglycemia / Q000188:drug therapy / Q000209:etiology*; D007657:Ketone Bodies / Q000652:urine; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000378:metabolism
chemical_list: D001786:Blood Glucose; D007657:Ketone Bodies; D005947:Glucose; D000409:Alanine