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 anemia its first step, of taking an oral dose of radiolabelled vitamin B, followed by quantitation of the vitamin in the patient's urine over a 24-hour period via measurement of the radioactivity. A second step of the test repeats the regimen and procedure of the first step, with the addition of oral intrinsic factor. A patient with PA presents lower than normal amounts of intrinsic factor; hence, addition of intrinsic factor in the second step results in an increase in vitamin B absorption (over the baseline established in the first). The Schilling test distinguished PA from other forms of B deficiency,