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Maternal Phenylketonuria and Tetrahydrobiopterin

Pediatrics, 2008
Untreated maternal phenylketonuria (PKU) results in a significant occurrence of microcephaly and congenital heart disease in the offspring. Before the documentation of this fact by Lenke and Levy1 in 1980, there was confusion as to the occurrence of these abnormalities.
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Tetrahydrobiopterin Metabolism

1988
Tetrahydrobiopterin is the cofactor for the hydroxylation of phenylalanine, tyrosine and tryptophan and is therefore essential for the production of monoamine neurotransmitters. Neopterin, a biosynthetic precusor of tetrahydrobiopterin, and biopterin appear in urine. In normal subjects the urinary neopterin to biopterin ratio has been found to be about
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Tetrahydrobiopterin-(BH4-)Mangelkrankheiten

2014
Die Krankheitsgruppe umfasst 6 angeborene Stoffwechselstorungen, die mit einem Tetrahydrobiopterinmangel (BH4-Mangel) entweder aufgrund einer gestorten BH4-Biosynthese oder eines gestorten BH4-Recyclings einhergehen. Tetrahydrobiopterin (BH4) ist ein essenzieller Kofaktor bei der Biosynthese der Neurotransmitter Dopamin und Serotonin und bei der ...
T. Opladen, N. Blau
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Tetrahydrobiopterin and phenylketonuria