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Article

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.

Molecular genetics and metabolism - 1 Jun 2021

Himmelreich Nastassja, Blau Nenad, Thöny Beat

Abstract excerpt

Tetrahydrobiopterin (BH4) deficiency is caused by genetic variants in the three genes involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl-tetrahydropterin synthase (PTPS/PTS), sepiapterin reductase (SR/SPR), and the two genes involved in cofactor recycling, carbinolamine-4α-dehydratase (PCD/PCBD1) and dihydropteridine reductase (DHPR/QDPR). Dysfunction in BH4 metabolism leads...

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PMID: 33903016
DOI: 10.1016/j.ymgme.2021.04.003

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