Signs of ARG1-D
Arginase 1 Deficiency (ARG1-D) is a rare, inherited metabolic disease affecting children, teenagers and adults. ARG1-D is characterised by high levels of plasma arginine and affects about 1 in a million people.
Sometimes ARG1-D can be missed or misdiagnosed as other conditions such as cerebral palsy (CP) or hereditary spastic paraplegia (HSP) as the symptoms of ARG1-D often mimic those of other neurologic and neurometabolic disorders.
While ARG1-D is a rare condition, patients and families don’t have to face it alone. Always seek the advice of a physician or other qualified healthcare professional if you suspect ARG1-D.
Progressive Spasticity
Muscle stiffness or tightness, especially in the legs, making movement difficult.
Developmental Delay
Delays in developmental milestones like sitting, crawling, or walking.
Intellectual Disability
Challenges with learning, problem-solving, and cognitive abilities.
Seizures
Recurrent seizures which can vary in frequency and severity.
Impaired Mobility
Limitations on ability to walk, run, balance, or engage in activities that require coordination and motor skills.
Overlapping symptoms with Cerebral Palsy and Hereditary Spastic Paraplegia
Misdiagnosis or confusion between ARG1-D, CP, or HSP can arise due to overlapping symptoms.
These signs may indicate ARG1-D:
- Progressive Neurological Symptoms
Unlike CP, which is non-progressive, ARG1-D may show progressive neurological deterioration, including worsening spasticity, loss of motor skills, or intellectual disability. Family History
ARG1-D is an autosomal recessive disorder, meaning both parents must carry a mutated gene for a child to inherit the condition. A family history of similar symptoms or known genetic mutations can be a clue.Onset and Age of symptoms
While CP and HSP typically start early and remain stable, ARG1-D can progress over time, often becoming more noticeable in later childhood or adulthood.Elevated plasma arginine
ARG1-D is characterised by elevated levels of arginine in the blood due to the deficiency of the enzyme arginase 1, a feature absent in CP or HSP.
