Diagnoses: High level of serum methylmalonic acid and the mut genotype sequences confirmed the diagnosis of this adult-onset MMA.
To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS.
Isolated methylmalonic aciduria (MMA) is an autosomal-recessive disorder We describe a patient with isolated MMA presenting to our adult.
Methylmalonic acidemia (METH-EL-MAL-ON-IC ACID-EEM-EEA) is genetic disorder that affects how protein is broken down in the body. It is a metabolic.