PT - JOURNAL ARTICLE AU - M. Humbert AU - P. Labrune AU - O. Sitbon AU - C. Le Gall AU - J. Callebert AU - P. Hervé AU - D. Samuel AU - R. Machado AU - R. Trembath AU - L. Drouet AU - J-M. Launay AU - G. Simonneau TI - Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis AID - 10.1183/09031936.02.00258702 DP - 2002 Jul 01 TA - European Respiratory Journal PG - 59--65 VI - 20 IP - 1 4099 - http://erj.ersjournals.com/content/20/1/59.short 4100 - http://erj.ersjournals.com/content/20/1/59.full SO - Eur Respir J2002 Jul 01; 20 AB - 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·L−1) or type-Ia glycogen-storage disease (36.8±11.5 nmol·L−1), as compared with controls (8.8±0.6 nmol·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·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. This study was supported by grants from Universite Paris-Sud, Institut National de la Santé et de la Médicale (INSERM) and Association Francaise contre les Myopathies (AFM).