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Tetrahydrobiopterin biosynthesis, regeneration and functions.
Based on gene cloning, recombinant expression, mutagenesis studies, structural analysis of crystals and NMR studies, reaction mechanisms for the biosynthetic and recycling enzymes were proposed, and BH(4) deficiency due to autosomal recessive mutations in all enzymes (except sepiapterin reductase) have been described as a cause of hyperphenylalaninaemia.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
The complete European guidelines on phenylketonuria: diagnosis and treatment
- A. V. van Wegberg, A. Macdonald, F. V. van Spronsen
- MedicineOrphanet Journal of Rare Diseases
- 12 October 2017
Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant and knowledge gaps are identified which require further research in order to direct better care for the future.
Tetrahydrobiopterin: biochemistry and pathophysiology.
A major contributor to vascular dysfunction associated with hypertension, ischaemic reperfusion injury, diabetes and others, appears to be an effect of oxidized BH4, which leads to an increased formation of oxygen-derived radicals instead of NO by decoupled NOS.
Cerebral folate deficiency
A novel neurometabolic syndrome in 20 children resulted in a favourable clinical response in patients identified before the age of six years while partial recovery with poorer outcome was found beyond the Age of 6 years.
Laboratory guide to the methods in biochemical genetics
This guide to the methods in biochemical genetics highlights the importance of knowing the carrier and removal status of canine coronavirus to determine the carrier status of the virus.
Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
Genotype analysis of 315 BH4‐responsive patients and comparison with the data from the PAHdb locus‐specific knowledgebase, as well as with previously published PAH mutations for several European countries, Northern China, and South Korea, suggest that BH 4‐responsiveness may be more common than assumed and to some extent may be predicted or excluded from the patient's genotype.
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
- L. Bonafė, B. Thöny, J. Penzien, B. Czarnecki, N. Blau
- Biology, MedicineAmerican journal of human genetics
- 1 August 2001
It is proposed that, for the biosynthesis of BH(4) in peripheral tissues, SR activity may be substituted by aldose reductase (AR), carbonyl reductases (CR), and dihydrofolate reduct enzyme, whereas, in the brain, only AR and CR are fully present.