title: Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis.
abstract: A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study. It has been suggested that the occurrence of pulmonary arterial hypertension in type-Ia glycogen-storage disease could be due to an abnormal production of vasoconstrictive amines such as serotonin. To test this hypothesis, plasma serotonin concentrations were prospectively measured in 13 patients with type-Ia glycogen-storage disease, one patient with severe pulmonary hypertension and type-Ia glycogen-storage disease, 16 patients displaying severe pulmonary arterial hypertension, and 26 normal healthy controls. Elevated plasma serotonin concentrations were found in patients with either severe pulmonary arterial hypertension (38.8+/-7.3 nmol x L(-1)) or type-Ia glycogen-storage disease (36.8+/-11.5 nmol x L(-1)), as compared with controls (8.8+/-0.6 nmol x L(-1), p<0.001). Plasma serotonin was dramatically elevated in the patient with type-Ia glycogen-storage disease and pulmonary arterial hypertension (113.4 nmol x L(-1)). It is concluded that type-Ia glycogen-storage disease may be another condition in which abnormal handling of serotonin is one event in a multistep process leading to severe pulmonary arterial hypertension.
authors.affiliation: Unité Propre de Recherche de l'Enseignement Supérieur 2705, Centre des Maladies Vasculaires Pulmonaires, Hĵpital Antoine Béclère, Université Paris Sud, Clamart, France. humbert@ipsc.u-psud.fr
authors.forename: M
authors.initials: M
authors.lastname: Humbert
authors.forename: P
authors.initials: P
authors.lastname: Labrune
authors.forename: O
authors.initials: O
authors.lastname: Sitbon
authors.forename: C
authors.initials: C
authors.lastname: Le Gall
authors.forename: J
authors.initials: J
authors.lastname: Callebert
authors.forename: P
authors.initials: P
authors.lastname: Hervé
authors.forename: D
authors.initials: D
authors.lastname: Samuel
authors.forename: R
authors.initials: R
authors.lastname: Machado
authors.forename: R
authors.initials: R
authors.lastname: Trembath
authors.forename: L
authors.initials: L
authors.lastname: Drouet
authors.forename: J M
authors.initials: JM
authors.lastname: Launay
authors.forename: G
authors.initials: G
authors.lastname: Simonneau
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D016166:Free Radical Scavengers / Q000097:blood*; D005953:Glycogen Storage Disease Type I / Q000097:blood* / Q000150:complications* / Q000235:genetics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000097:blood* / Q000209:etiology* / Q000235:genetics; D008297:Male; D011446:Prospective Studies; D012701:Serotonin / Q000097:blood*; D012720:Severity of Illness Index
chemical_list: D016166:Free Radical Scavengers; D012701:Serotonin