From anonymity to recognition: The challenge of underdiagnosis and misdiagnosis in rare diseases
As we highlight Rare Disease Day, it’s crucial to focus on the often-overlooked issue of underdiagnosis and misdiagnosis in conditions like Arginase 1 Deficiency (ARG1-D), a progressive genetic metabolic disorder characterized by elevated plasma arginine levels, leading to serious health issues. ARG1-D presents with progressive neurological impairment, developmental delay, progressive spasticity and intellectual disability. The invisibility of rare diseases like ARG1-D in both public awareness and medical practice results in delayed interventions or even the omission of relevant treatments,
