A case of MTHFR deficiency

Abstract

Introduction
This case highlights a rare, potentially treatable cause of adult-onset spastic paraparesis—methylenetetrahydrofolate reductase (MTHFR) deficiency. Early diagnosis of this metabolic disorder is essential to prevent disease progression and irreversible neurological damage. This report adds to the limited literature on late-onset MTHFR deficiency, emphasizing the importance of metabolic evaluation in unexplained spastic paraparesis.
Patient Concerns and Clinical Findings
Chief Complaints:
Progressive stiffness in both lower limbs for 1 year
Weakness in both lower limbs for 5 months
History of Present Illness:
Difficulty wearing footwear and foot dragging
Pseudobulbar affect
Difficulty walking, climbing stairs, and rising from a squatting position
General Examination:
Tall, well-built male
Presence of gynecomastia
Neurological Examination:
No cranial nerve deficits or sensory loss
Spastic gait with Grade 3 spasticity
Exaggerated deep tendon reflexes
Bilateral extensor plantar responses
Diagnosis, Interventions, and Outcome
Diagnosis:
Adult-onset MTHFR deficiency presenting as spastic paraparesis with hyperhomocysteinemia
Interventions:
Anhydrous betaine (targeting homocysteine metabolism)
Baclofen (for symptomatic spasticity relief)
Outcome:
The patient was discharged with improved lower limb strength (power +4/5 bilaterally) and is under regular follow-up for monitoring and ongoing management.
Conclusion and Key Take aways
Inborn errors of metabolism, including MTHFR deficiency, can manifest in adulthood.
MTHFR deficiency, though rare, is a treatable cause of progressive neurological decline.
Routine measurement of plasma homocysteine levels in cases of unexplained spastic paraparesis can facilitate early diagnosis and intervention, potentially preventing irreversible neurological damage.