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Methylmalonic aciduria
- Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in ...
- ... DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome, encephalomyopathic form with or ...
- ... of the condition. Fatal infantile lactic acidosis with methylmalonic aciduria Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MTDPS9 Succinate-coenzyme A ligase deficiency SUCLG1 deficiency ...
- ... Methylmalonic acidemia and homocystinemia Methylmalonic acidemia and homocystinuria Methylmalonic aciduria and homocystinuria Vitamin B12 metabolic defect with combined ...
- ... and symptoms of the condition. Isolated methylmalonic acidemia Methylmalonic aciduria MMA Genetic Testing Registry: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Genetic Testing Registry: Methylmalonic aciduria, cblA type Genetic Testing Registry: Methylmalonic aciduria, cblB ...
- ... the body, resulting in metabolic conditions known as methylmalonic aciduria or homocystinuria. The prevalence of transcobalamin deficiency is ...
- ... REDUCTASE ACTIVITY HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE TYPE; HMAE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, ...
- ... Levy HL. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; ...