title: Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
abstract: A male infant is described who presented with persistent hyperinsulinaemic hypoglycaemia, responding to diazoxide treatment. However, this therapy was discontinued because of seizures as a consequence of disturbed water and electrolyte balance. Glucose homeostasis could only be maintained by subtotal pancreatectomy, which was performed at 3 8/12 years of age. He developed a severe thrombosis, whereon a congenital disorder of glycosylation (CDG) was suspected. An abnormal transferrin isoelectric focusing pattern was found and the diagnosis of CDG Ia was confirmed by enzyme and molecular genetic analysis. This is the first patient with phosphomannomutase deficiency (McKusick 601785) described presenting with severe hyperinsulinaemic hypoglycaemia.
authors.affiliation: Department of Pediatrics, Johann Wolfgang Goethe University Frankfurt/Main, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Böhles
authors.forename: A A
authors.initials: AA
authors.lastname: Sewell
authors.forename: B
authors.initials: B
authors.lastname: Gebhardt
authors.forename: A
authors.initials: A
authors.lastname: Reinecke-Lüthge
authors.forename: G
authors.initials: G
authors.lastname: Klöppel
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
mesh_terms: D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000209:etiology*; D007003:Hypoglycemia / Q000209:etiology*; D007223:Infant; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency* / Q000235:genetics
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase