Tetrahydrobiopterin deficiency |
BH4 Deficiency; Non-Phenylketonuric Hyperphenylalaninemia |
Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners. If tetrahydrobiopterin deficiency is not treated, excess phenylalanine can build up to harmful levels in the body, causing mental retardation and other serious health problems. High levels of phenylalanine are present from in ...
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Tetrahydrobiopterin deficiency News Headlines
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