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 E deficiency from simple lack of vitamin E in a person's diet, but it can arise from physiological abnormalities. It occurs in the people in the following situations: The U.S. Institute of Medicine defines deficiency as a serum concentration of less than 12 µmol/L. Treatment is oral vitamin E supplementation. Vitamin E deficiency Vitamin E deficiency in humans is a very rare condition, occurring as a consequence of abnormalities in dietary fat absorption or metabolism rather than from a diet low in vitamin E. Collectively the EARs, RDAs, AIs and ULs for vitamin E and other essential nutrients are referred to as