Impact of gut probiotic metabolites on phenylketonuria
Frontiers in Cellular and Infection MicrobiologyPhenylketonuria is an unusual inherited metabolic disease induced by mutations of the phenylalanine hydroxylase gene, resulting in phenylalanine accumulation.
Anjana Kalla Veedu +3 more
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The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response [PDF]
, 2017 The discovery of a pharmacological treatment for phenylketonuria (PKU) raised new questions about function and dysfunction of phenylalanine hydroxylase (PAH), the enzyme deficient in this disease.
Blau, Nenad +8 more
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Electroanalysis, Volume 38, Issue 5, May 2026.Online electrochemistry with mass spectrometry, followed by a combination of these two techniques with capillary electrophoresis as a strong separation technique in between, is used to study the oxidation behavior of L‐tyrosine at a neutral pH value to suggest possible electrogenerated products on the surface of a carbon‐based screen‐printed electrode.
Seyedehelahe Bagherimetkazini +1 more
wiley +1 more source
The Reaction Mechanism of Phenylalanine Hydroxylase. – A Question of Coordination
Pteridines, 2005 Phenylalanine hydroxylase (PAH) is a non-heme iron and tetrahydrobiopterin-dependent enzyme that catalyzes the hydroxylation of L-phenylalanine to L-tyrosine using dioxygen as additional substrate.
Teigen Knut +2 more
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Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]
, 2007 Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
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Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study [PDF]
, 2016 BACKGROUND: It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland.
AB Burlina +19 more
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Food Frontiers, Volume 7, Issue 3, May 2026.This study investigated the effects of salicylic acid (SA) application on the softening of grapes (Vitis vinifera L. ‘Red Globe’) during cold storage. The results demonstrated that SA treatment effectively delayed softening by regulating cell wall, cuticular wax, and phenylpropanoid metabolism.
Guihua Zeng +6 more
wiley +1 more source
Histopathological Effects on the Eye Development During Perinatal Growth of Albino Rats Maternally Treated with Experimental Phenylketonuria During Pregnancy [PDF]
, 2016 Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Ebied, H. M. (Hala) +3 more
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A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ +8 more
wiley +1 more source
Revista Ciencias Biomédicas, 2013 Introduction: Phenylketonuria (PKU) is an error of the metabolism of the amino acids due to the gene mutation that codifies for the enzyme called phenylalanine hydroxylase (PAH). 564 cases of mutations in different exons have been reported.
Alvear-Sedán Ciro +2 more
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