Tetrahydrobiopterin deficiency is indicated at least in tetrahydrobiopterin deficiency caused by GTPCH deficiency or PTPS deficiency. This condition is very rare; approximately 600 cases have been reported worldwide. In most parts of the world, only 1% to 2% of all infants with high phenylalanine levels have this disorder. In Taiwan, about 30% of newborns with elevated levels of phenylalanine have a deficiency of THB. Subclinical deficiency can be found in individuals with poor diet (including low intake of folate or vitamin C) or genetic mutations in the MTHFR genes, which are involved in BH4 synthesis and recycling. Tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency (THBD,
Vitamin B12 deficiency be considered only if blood testing is inconclusive. The Schilling test was a radio-isotope method, now outdated, of testing for low vitamin B. The National Institutes of Health (NIH) has found that "Large amounts of folic acid can mask the damaging effects of vitamin B deficiency by correcting the megaloblastic anemia caused by vitamin B deficiency without correcting the neurological damage that also occurs", there are also indications that "high serum folate levels might not only mask vitamin B deficiency, but could also exacerbate the anemia and worsen the cognitive symptoms associated with vitamin B deficiency". Due to the fact