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1

tetrahydrobiopterin

Malignant Hyperphenylalaninemia is a rare genetic disorder that affects the body's ability to process the amino acid phenylalanine. It is caused by a mutation in the gene responsible for the production of the enzyme phenylalanine hydroxylase, which is responsible for the breakdown of phenylalanine. Symptoms of this disorder include mental retardation, seizures, and behavioral problems. Treatment typically involves a low-phenylalanine diet and medication to control symptoms.

2

tetrahydrobiopterin

Tetrahydrobiopterin is actually a cofactor of the hydrolase enzyme of three amino acids: tyrosine hydroxylase, phenylalanine hydroxylase, and tryptophan hydroxylase, as well as nitric oxide synthase.

3

tetrahydrobiopterin

Animals and other organs synthesize it. It's a pterin coenzyme, not a vitamin. It's a cofactor of hydroxylases, playing a role in the conversion of phenylalanine to tyrosine.

4

tetrahydrobiopterin

It is a necessary component of the enzymes phenylalanine hydroxylase and tyrosine hydroxylase.

5

tetrahydrobiopterin

It is employed in the management of phenylketonuria (see bh4).

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