Oct 27, 2022 · Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-glucosidase enzyme deficiency is observed.

Nov 22, 2017 · Results: No publications on the humanistic burden of infantile-onset Pompe disease (IOPD) were identified. As such, of 17 publications included here, all are in patients with late-onset Pompe disease (LOPD).

Sep 11, 2019 · Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in Thailand.

Mar 18, 2024 · Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by hypertrophic cardiomyopathy detectable during fetal development and significant generalized hypotonia in early infancy.

Nov 22, 2017 · Pompe disease presents as a wide spectrum of phenotypes, ranging from the severe, rapidly progressive infantile-onset Pompe disease (IOPD) to the more slowly progressing late-onset Pompe disease (LOPD) that can manifest any time from early childhood to late adulthood [4, 5, 6].

Infantile-onset Pompe disease (IOPD) is characterized by virtually complete absence of acid alpha-glucosidase (GAA)-activity, resulting in rapidly progressive hypertrophic cardiomyopathy (HCM), profound skeletal muscle weakness, and death usually within the first 12 months of life.

Oct 27, 2022 · Background: Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases,...

Dec 6, 2023 · Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pompe Registry to determine the association between ALGLU dose and survival in IOPD.

Background Starting enzyme replacement therapy (ERT) before severe irreversible muscular damage occurs is important in infantile-onset Pompe disease (IOPD). This long-term follow-up study demonstrates our diagnostic and treatment strategies for IOPD and compares our clinical outcomes with those of other medical centres.

Jan 23, 2025 · IOPD is the most severe type with an age of onset at ≤ 12 months, progressive hypertrophic cardiomyopathy, left ventricular outflow obstruction, muscle weakness, hypotonia, respiratory distress, and progressive loss of independent ventilation.