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2. Phenylketonuria - Wikipedia

   en.wikipedia.org/wiki/Phenylketonuria

   PAH deficiency causes a spectrum of disorders, including classic phenylketonuria (PKU) and mild hyperphenylalaninemia (also known as "hyperphe" or "mild HPA"), [24] a less severe accumulation of phenylalanine. Compared to classic PKU patients, patients with "hyperphe" have greater PAH enzyme activity and are able to tolerate larger amounts of ...

3. Phenylalanine hydroxylase - Wikipedia

   en.wikipedia.org/wiki/Phenylalanine_hydroxylase

   Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine.PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH 4, a pteridine cofactor) and a non-heme iron for catalysis.

4. Hyperphenylalaninemia - Wikipedia

   en.wikipedia.org/wiki/Hyperphenylalaninemia

   These infants exhibit normal phenylalanine hydroxylase (PAH) enzymatic activity but have a deficiency in dihydropteridine reductase (DHPR), an enzyme required for the regeneration of tetrahydrobiopterin (THB or BH 4), a cofactor of PAH. [citation needed] Less frequently, DHPR activity is normal but a defect in the biosynthesis of THB exists. In ...

5. Why Early Diagnosis of PAH is So Important - AOL

   www.aol.com/why-early-diagnosis-pah-important...

   Pulmonary arterial hypertension is a specific type of pulmonary hypertension caused when the tiny arteries in the lung become thickened and narrowed. This blocks blood flow through the lungs ...

6. Dihydropteridine reductase deficiency - Wikipedia

   en.wikipedia.org/wiki/Dihydropteridine_reductase...

   Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal recessive pattern. It is one of the six known disorders causing tetrahydrobiopterin deficiency , and occurs in patients with mutations of the QDPR gene.

7. Tetrahydrobiopterin - Wikipedia

   en.wikipedia.org/wiki/Tetrahydrobiopterin

   Tetrahydrobiopterin (BH 4, THB), also known as sapropterin (), [5] [6] is a cofactor of the three aromatic amino acid hydroxylase enzymes, [7] used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline), and is a cofactor for the ...