Results 21 to 30 of about 538,734 (195)
Biopterin responsive phenylalanine hydroxylase deficiency [PDF]
Genetics in Medicine, 2004 Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. There have been more than 400 mutations identified in the PAH gene leading to variable degrees of deficiency in PAH activity, and consequently a wide spectrum of clinical severity.
Reuben, Matalon +11 more
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Effect of experimental phenylketonuria on some organs of pregnant mothers of albino rats and their young’s during perinatal life. [PDF]
Journal of Bioscience and Applied Research, 2016 Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.It results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Hassan. I. Elsayyad +3 more
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Different Phenotypes for Phenylalanine Hydroxylase Deficiency [PDF]
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977 Abnormalities related to the hydroxylation of phenylalanine to tyrosine are classified into three phenotypes based on the amount of dietary phenylalanine tolerated to keep serum phenylalanine within therapeutic levels, i.e., 180–425 μmol/l (3–7 mg/100 ml): (1) Classical phenylketonuria (PKU) tolerating approximately 17% of a normal intake of ...
F, Güttler, G, Hansen
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Continuation of pegvaliase treatment during pregnancy: A case report
Molecular Genetics and Metabolism Reports, 2021 Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels.
Monica Boyer +5 more
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Clinical, genetic, and experimental research of hyperphenylalaninemia
Frontiers in Genetics, 2023 Hyperphenylalaninemia (HPA) is the most common amino acid metabolism defect in humans. It is an autosomal-recessive disorder of the phenylalanine (Phe) metabolism, in which high Phe concentrations and low tyrosine (Tyr) concentrations in the blood cause ...
Anqi Chen, Yukun Pan, Jinzhong Chen
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Orphanet Journal of Rare Diseases, 2020 Background Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive and ...
Tracy Brock Lowe +2 more
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Orphanet Journal of Rare Diseases, 2021 Background Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency.
Xin Wang +7 more
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Frontiers in Pediatrics, 2022 Inborn errors of metabolism (IEMs) are strongly related to abnormal growth and development in newborns and can even result in death. In total, 94,648 newborns were enrolled for expanded newborn screening using tandem mass spectrometry (MS/MS) from 2016 ...
Muping Zhou +7 more
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Journal of Neuroanaesthesiology and Critical Care, 2022 Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase which results in accumulation of phenylalanine. Patients of PKU presents with seizures, mental retardation, and organ damage and possess
Kumari Pallavi +4 more
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The molecular basis of phenylalanine hydroxylase deficiency in Croatia [PDF]
Human Mutation, 2003 We present the results of a comprehensive analysis of mutations, polymorphisms and haplotypes in the phenylalanine hydroxylase (PAH) gene in 39 Croatian families with phenylketonuria (PKU). A total of 21 disease-causing mutations was identified on 78 out of 79 independent chromosomes.
Zschocke, Johannes +6 more
openaire +4 more sources