Combined malonic and methylmalonic aciduria - meaning and definition. What is Combined malonic and methylmalonic aciduria
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What (who) is Combined malonic and methylmalonic aciduria - definition


Combined malonic and methylmalonic aciduria         
  • Mitochondrial methylmalonic acid synthesis
HUMAN DISEASE
Draft:Combined malonic and methylmalonic aciduria; CMAMMA; Combined malonic and methylmalonic acedemia; Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic acid and methylmalonic acid. Some researchers have hypothesized that CMAMMA might be one of the most common forms of methylmalonic acidemia, and possibly one of the most common inborn errors of metabolism.
Methylmalonic acidemia         
  • Methylmalonic acidemia is caused by a defect in the vitamin B<sub>12</sub>-dependent enzyme methylmalonyl CoA mutase.
ORGANIC ACIDEMIA THAT INVOLVES AN ACCUMULATION OF METHYLMALONIC ACID IN THE BLOOD
Methylmalonic aciduria
Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia.
Orotic aciduria         
PYRIMIDINE METABOLIC DISORDER THAT IS CHARACTERIZED BY AN EXCESSIVE SECRETION OF OROTIC ACID IN URINE
Orotic aciduria hereditary; Orotic aciduria purines-pyrimidines; Hereditary orotic aciduria
Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency resulting in a decreased ability to synthesize pyrimidines. It was the first described enzyme deficiency of the de novo pyrimidine synthesis pathway.