Prevalence
The exact prevalence of ARG1-D is not known
Worldwide, ARG1-D occurs with an estimated median prevalence of 1 case per million people in the general population, although ranges are broad1
The estimated median prevalence of ARG1-D within the UCD population is 3.8%1
The prevalence of ARG1-D does not vary by geography, ethnicity, or sex2
ARG1-D may be more common than previously thought
Estimates of ARG1-D prevalence are limited by inconsistencies in newborn screening (NBS) and high rates of misdiagnosis3,4
- Most EU countries do not include ARG1-D in NBS5
A systematic review of findings from genetic population databases estimated the population prevalence for ARG1-D at 1.4 cases per million people (approximately 1 in 726,000)6
Poor disease awareness and underreporting on NBS mean ARG1-D patients may be underdiagnosed, and the burden of illness higher than previously thought
- Bin Sawad A, et al. Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic Review. Mol Genet Metab. 2022;137(1-2):153-163.
- De Deyn PP, et al. Hyperargininemia: a treatable inborn error of metabolism. In: Guanidino Compounds inBiology and Medicine. London UK: John Libbey Company Ltd; 1997:53–69.
- Jay A, et al. Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). JIMD Rep. 2013;9:121-124.
- Carvalho DR, et al. Clinical Features and Neurologic Progression of Hyperarginemia. Pediatr Neurol. 2012;46:369–374.
- Loeber GJ, et al. Neborn screening programmes in Europé; arguments and efforts regarding harmonization. Part 1 – From blood spot to screening result. J Inherit Metab Dis. 2012;35:603–611.
- Catsburg, C., Anderson, S., Upadhyaya, N. et al. Arginase 1 Deficiency: using genetic databases as a tool to establish glboal prevalence. Orphanet J Rare Dis 17, 94 (2022).