Type 1a Glycogen Storage Disease

PH has been reported in a few cases of type Ia glycogen storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase (120 –122). The mechanism of PH is uncertain but has been associated with portocaval shunts, atrial septal defects, or severe restrictive pulmonary function defects. Thrombosis may also play a role in this setting. In 1 case, autopsy findings revealed the presence of plexiform lesions (123).

(see Pulmonary Hypertension, [[Pulmonary Hypertension]])


  • 120 Hamaoka K, Nakagawa M, Furukawa N, Sawada T. Pulmonary hypertension in type I glycogen storage disease. Pediatr Cardiol 1990;11:54 – 6.
  • 121 Inoue S, Nakamura T, Hasegawa K, et al. [Pulmonary hypertension due to glycogen storage disease type II (Pompe’s disease): a case report]. J Cardiol 1989;19:323–32.
  • 122 Humbert M, Labrune P, Sitbon O, et al. Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. Eur Respir J 2002;20:59–65.
  • 123 Pizzo CJ. Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension. Pediatrics 1980;65:341–3