Methylmalonic Acidemia - Methylmalonic acidemia adult

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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.

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By Faulabar - 20:22
Isolated methylmalonic aciduria (MMA) is an autosomal-recessive disorder of amino acid metabolism caused by impaired activity of the methylmalonyl-coenzyme A mutase enzyme.​ Movement disorders (dystonia, chorea, myoclonus, and tremor) occur in 30% to 45% of cases.​ Full blood count.
By Meztihn - 01:45
Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a.
By Gumi - 12:00
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.

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