Tetrahydrobiopterin as an Alternative Treatment for Mild ...

Tetrahydrobiopterin as an alternative treatment for mild ... - PubMed

Tetrahydrobiopterin responsiveness is common in patients with mild hyperphenylalaninemia phenotypes. Responsiveness cannot consistently be predicted on the ...

Long-term treatment with tetrahydrobiopterin in five children increased daily phenylalanine tolerance, allowing them to discontinue their restricted diets.

122602 Tetrahydrobiopterin as an Alternative Treatment - CiteSeerX

hyperphenylalaninemia (10 patients) or mild phenylke- tonuria (21 patients), tetrahydrobiopterin significantly lowered blood phenylalanine ...

Tetrahydrobiopterin as an alternative treatment for mild ...

In 27 (87 percent) of 31 patients with mild hyperphenylalaninemia (10 patients) or mild phenylketonuria (21 patients), tetrahydrobiopterin significantly lowered ...

Long-term treatment of patients with mild and classical ... - PubMed

Tetrahydrobiopterin (BH4), the natural cofactor of phenylalanine hydroxylase (EC 1.14.16.1), can reduce blood phenylalanine (Phe) in BH4 sensitive patients ...

Long-term treatment with tetrahydrobiopterin increases ...

In a considerable number of children with mild hyperphenylalaninemia, long-term tetrahydrobiopterin (BH4) treatment significantly improves phenylalanine (phe) ...

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin ... - Nature

Responsiveness apparently depends on mutations in the PAH gene causing mild PKU, such as R241C. BH4 proved to be an effective therapy that may ...

Tetrahydrobiopterin Deficiency - Symptoms, Causes, Treatment

Tetrahydrobiopterin (BH4) deficiencies is a general term for a group of disorders characterized by abnormalities in the creation (biosynthesis) or regeneration ...

Consensus guideline for the diagnosis and treatment of ...

Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the ...

Long-term treatment of patients with mild and classical ...

... affinity for the cofactor BH4. Expand. 48 Citations. Add to Library. Alert. 1 Excerpt. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

13 In patient 1, who responded well to BH4 therapy, P407S and R252W subunits ... Tetrahydrobiopterin as an alternative treatment for mild phenylketonukia.

Effects and clinical significance of tetrahydrobiopterin ...

As a BH4 preparation will soon obtain marketing approval as an alternative treatment for phenylketonuria (PKU), it is particularly important to ...

[Retracted] Influencing Factors on the Use of Tetrahydrobiopterin in ...

It shows that the application of tetrahydrobiopterin intervention therapy is effective in patients with PKU. The results of the full-length cDNA ...

Potential Role of Tetrahydrobiopterin in the Treatment of Maternal ...

Effect of BH4 supplementation on blood Phe levels in a patient with mild PKU (genotype Y414C/R408W). The patient was first allowed to relax the ...

Alternative Therapies for PKU - SciELO

Tetrahydrobiopterin Therapy. Tetrahydrobiopterin (BH4) is a natural cofactor of PAH. ... patients with mild and moderate PKU, and in about 10% of patients ...

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4 ...

Muntau, AC ∙ Roschinger, W ∙ Habich, M ∙ et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002; 347:2122 ...

Diagnostic and therapeutic recommendations for the treatment of ...

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. ... Efficacy and safety of BH4 before the age of 4 years in patients ...

Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor - MDPI

Tetrahydrobiopterin (BH4) is an endogenous cofactor for some enzymatic conversions of essential biomolecules, including nitric oxide, and monoamine ...

A decade of tetrahydrobiopterin treatment for phenylketonuria

... treatment of tetrahydrobiopterin (BH4) deficiencies,” Orphanet J. ... [31] A. C. Muntau et al., “Tetrahydrobiopterin as an Alternative Treatment for Mild.

Efficiency of long-term tetrahydrobiopterin monotherapy in ...

Both children have shown normal development. Generally, our results suggest that BH4 treatment might be an option for some patients with mild PKU, as it frees ...