About Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a group of inherited metabolic disorders caused by inability to metabolize certain amino acids and odd-chain fatty acids, resulting in accumulation of methylmalonic acid. The most common form involves deficiency of methylmalonyl-CoA mutase (MUT). Patients experience recurrent metabolic crises with lethargy and vomiting, chronic kidney disease, and neurological complications. Some forms respond to vitamin B12 (cobalamin), while mut0 forms do not.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Methylmalonic Acidemia trials.
Vitamin B12 (cobalamin) responsiveness testing distinguishes responsive forms from mut0 — trial eligibility often separates these groups
Estimated GFR (eGFR) is a primary eligibility criterion — significant renal impairment may exclude patients from certain trials
Urinary and plasma methylmalonic acid levels are the primary biomarkers; document baseline values carefully
Liver-kidney transplant recipients may be eligible for quality-of-life or long-term outcome studies
Patient Resources
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