Photo by mufidpwt from unsplash
Arginase 1 Deficiency (ARG1‐D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease… Click to show full abstract
Arginase 1 Deficiency (ARG1‐D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1‐D can be diagnosed as hereditary spastic paraplegia (HSP), leading to treatment delays.
Keywords:
diagnosed hereditary;
hereditary spastic;
spastic paraplegia;
arginase deficiency
Journal Title: Movement Disorders Clinical Practice
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Movement Disorders Clinical Practice
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!