Genetic<unk>  has an autosomal recessive pattern of inheritance.<unk>  is caused by a defect in the vitamin B12-dependent enzyme methylmalonyl CoA mutase. The inherited forms of<unk>  cause defects in the metabolic pathway where methylmalonyl-coenzyme A (CoA) is converted into succinyl-CoA by the enzyme methylmalonyl-CoA mutase. Vitamin B12 is also needed for the conversion of methylmalonyl-CoA to succinyl-CoA. Mutations leading to defects in vitamin B12 metabolism or in its transport frequently result in the development of<unk> . This disorder has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder. Nutritional Though not always grouped together with the inherited versions, a severe nutritional deficiency of vitamin B12 can also result in syndrome with identical symptoms and treatments as the genetic<unk> s. Methylmalonyl-CoA requires vitamin B12 to form succinyl-CoA. When the amount of B12 is insufficient for the conversion of cofactor methylmalonyl-CoA into succinyl-CoA, the buildup of unused methylmalonyl-CoA eventually leads to<unk> . This diagnosis is often used as an indicator of vitamin B12 deficiency in serum.
Methylmalonic acidemia
Hawkinsinuria
Phenylketonuria
Alkaptonuria
Glutaric acidemia type 2
Orotic aciduria
3-Methylglutaconic aciduria
Urocanic aciduria