Pulmonary hypertension in glycogen storage disease type I

Abstract

Summary In an attempt to detect acid maltase deficiency in neutrophils from patients with type II glycogenosis, without interference from the ‘renal’ α‐glucosidase activity present in these cells, we have evaluated the contribution of the renal component in the total activity measured at pH 4.0 in extracts of human neutrophils. The renal contribution is about 13–25% and renal glucosidase appears to be closely related to the enzyme present on the epithelium of small intestine, which is known to be inhibited by Tris. We have used this compound as a selective inhibitor of the renal component of α‐glucosidase activity measured at pH 4.0 in total extracts of neutrophils. Our results demonstrate that 0.1 mol/L Tris is an inhibitor of the renal α‐glucosidase present in neutrophils and can be used to reduce the interference from this enzyme in assays of acid maltase.

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

“…1 Pulmonary hypertension and early-onset atherosclerosis have been reported. 2,3 Thus, GSD-Ia is a severe, multi system disorder that results in significant morbidity and mortality.…”

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

“…To date, nine GSD I patients with PAH have been reported. 49,50,[157][158][159][160][161][162][163] Of these, five had concomitant conditions that were also associated with the development of PAH, including three patients with portocaval shunts, one patient with an atrial septal defect, and one patient with hereditary hemorrhagic telangiectasia. 33,49,84,[157][158][159]161 It has been suggested that abnormal handling of serotonin might be one event in a multistep process leading to PAH in GSD I patients.…”

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

“…The median patient age at the time of echocardiogram was 24 years, with a range of None of the echocardiograms reviewed showed evidence of PAH. Of the 6 patients in our review described previously by Kishnani et al, 7 2 had been noted to have estimated systolic pulmonary artery pressures >20 mm Hg (TR jet velocity >2.2 m/s). However, on follow-up, none of the patients showed abnormalities or progression to PAH on echocardiogram.…”