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]])