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Malonyl-CoA decarboxylase deficiency
Review Articles from PubMed
Editorials from PubMed
Research Articles from PubMed
Malonyl-CoA decarboxylase deficiency is an extremely rare autosomal recessive inborn error of fatty acid metabolism. It usually follows a severe disease course and presents poor prognosis without treatment. Here, we report an affected female juvenile with a mild clinical and biochemical ...
Malonyl-CoA decarboxylase (MLYCD, EC 22.214.171.124) deficiency is a rare autosomal recessive disorder that is widely diagnosed by neonatal screening.