Biopterin
Encyclopedia
Biopterin is a coenzyme that is produced within the body.
It is an oxidized degradation product of tetrahydrobiopterin
.
Defects in biopterin synthesis or regeneration can cause a form of hyperphenylalaninemia (a disease with symptoms similar to PKU
) .
Biopterin is synthesized in several parts of the body, including the pineal gland.
Biopterin deficiency has been associated with a variety of disorders, including dystonia
and rabies
.
It is an oxidized degradation product of tetrahydrobiopterin
Tetrahydrobiopterin
Tetrahydrobiopterin or sapropterin is a naturally occurring essential cofactor of the three aromatic amino acid hydroxylase enzymes, used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin , melatonin, dopamine, norepinephrine ,...
.
Defects in biopterin synthesis or regeneration can cause a form of hyperphenylalaninemia (a disease with symptoms similar to PKU
Phenylketonuria
Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
) .
Biopterin is synthesized in several parts of the body, including the pineal gland.
Biopterin deficiency has been associated with a variety of disorders, including dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
and rabies
Rabies
Rabies is a viral disease that causes acute encephalitis in warm-blooded animals. It is zoonotic , most commonly by a bite from an infected animal. For a human, rabies is almost invariably fatal if post-exposure prophylaxis is not administered prior to the onset of severe symptoms...
.