Similarly, fibroblasts of DBA patients present elevated levels of serine/glycine synthesis enzymes phosphoglycerate dehydrogenase (PHGDH), phosphoserine aminotransferase 1 (PSAT1), and the mitochondrial serine hydroxymethyltransferase 2 (SHMT2) [86]. This evidence concerns the gene SHMT2 and Diamond-Blackfan anemia.