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 A deficiency conjunctiva, known as Bitot's spots, can be seen. ; Imtiaz's sign is the earliest ocular sign of VAD. Conjunctival epithelial defects occur around lateral aspect of the limbus in the subclinical stage of VAD. These conjunctival epithelial defects are not visible on a biomicroscope, but they take up black stain and become readily visible after instillation of kajal (surma); this is called "Imtiaz's sign". VAD can also lead to impaired immune function, cancer, and birth defects. Vitamin A deficiency is one of several hypovitaminoses implicated in follicular hyperkeratosis. Night blindness is the difficulty for the eyes to adjust to dim