Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder resulting in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. This retrospective database analysis assessed the complications, resource utilization, and costs in a large cohort of patients with GSDIa. We conducted a retrospective cohort study of GSDIa patients and matched non-GSDIa comparators utilizing the PharMetrics® Plus database. International Classification of Diseases, Tenth Revision (ICD-10) diagnosis codes in any billing position for inpatient and outpatient claims (January 2016-February 2020) were identified for complications related to GSDIa. Healthcare use and costs were assessed by setting of care (inpatient, outpatient, physician office, emergency department, and pharmacy). Overall, 557 patients with GSDIa and 5570 matched comparators (male, 63%; adults, 67%) were identified. The most frequent complications in patients with GSDIa vs comparators included anemia due to enzyme disorders (odds ratio, 4.0 × 103; 95% confidence interval, 555.9-2.8 × 104), hepatocellular adenoma (305.9; 41.6-2.2 × 104), liver transplantation (164.6; 21.8-1.2 × 103), and gastrostomy (152.2; 61.1-379.2), as well as acidosis (45.5; 29.4-70.3), hepatomegaly (43.6; 29.1-65.3), hyperuricemia (23.6; 11.9-46.9), and hypoglycemia (20.2; 14.3-28.7). Chronic complications (eg, gout, osteoarthritis, chronic kidney disease, and neoplasms) were more common in adults with GSDIa, whereas acute complications (eg, poor growth, gastrostomy, seizure, and hypoglycemia) were more common in children with GSDIa. Patients with GSDIa more often required hospitalization (0.53 vs 0.06 hospitalizations per patient per year) vs comparators, including 2 or more hospitalizations (26.6% vs 2.3%), longer length of stay (3.1 vs 0.4 days), and more annual visits in all care settings, including 4.3 times more visits in the emergency department. Mean annual total healthcare costs were higher for GSDIa patients vs comparators ( 4410). In this large, retrospective database analysis, complications observed among patients with GSDIa were consistent with prior reports and demonstrate the chronic and progressive nature of the disease. Resource utilization was substantial in GSDIa patients, and mean annual total healthcare costs were almost 8 times higher than those of comparators. GSDIa is associated with numerous potentially serious and sometimes fatal complications, extensive resource utilization, and high management costs.
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http://dx.doi.org/10.36469/001c.125886 | DOI Listing |
J Health Econ Outcomes Res
January 2025
Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder resulting in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. This retrospective database analysis assessed the complications, resource utilization, and costs in a large cohort of patients with GSDIa. We conducted a retrospective cohort study of GSDIa patients and matched non-GSDIa comparators utilizing the PharMetrics® Plus database.
View Article and Find Full Text PDFJ Lipid Res
October 2024
Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy; CEINGE Biotecnologie Avanzate s.c.ar.l., Naples, Italy. Electronic address:
Glycogen storage disease type Ia (GSDIa) is a rare, inherited glucose-6-phosphatase-α (G6Pase-α) deficiency-induced carbohydrate metabolism disorder. Although hyperlipidemia is a hallmark of GSDI, the extent of lipid metabolism disruption remains incompletely understood. Lipidomic analysis was performed to characterize the serum lipidome in patients with GSDIa, by including age- and sex-matched healthy controls and age-matched hypercholesterolemic controls.
View Article and Find Full Text PDFJ Am Soc Nephrol
December 2024
Université Claude Bernard Lyon 1, INSERM, UMR_S1213, NUDICE, Villeurbanne, France.
JIMD Rep
July 2024
Department of Metabolic Diseases, Beatrix Children's Hospital University Medical Center Groningen, University of Groningen Groningen The Netherlands.
No sensitive tumor marker for hepatocellular carcinoma (HCC) is available for patients with glycogen storage disease type Ia (GSDIa), in whom alpha-fetoprotein and carcino-embryonic antigen levels often remain normal. We describe increased levels of the HCC tumor marker des-gamma-carboxy prothrombin (DCP) in GSDIa patients with HCC. In one case DCP levels normalized after liver transplantation.
View Article and Find Full Text PDFBMC Med Genomics
May 2024
Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610000, China.
Background: Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism. Glycogen storage disease type I (GSD-I) is also known as VonGeirk disease and glucose-6-phosphatase deficiency. This disease is inherited in an autosomal recessive manner, and both sexes can be affected.
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