"Phenylketonurias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
- Hyperphenylalaninemia, Non-Phenylketonuric
- Hyperphenylalaninemia, Non Phenylketonuric
- Non-Phenylketonuric Hyperphenylalaninemias
- BH4 Deficiency
- Deficiency, BH4
- Non-Phenylketonuric Hyperphenylalaninemia
- Non Phenylketonuric Hyperphenylalaninemia
- Tetrahydrobiopterin Deficiency
- Deficiency, Tetrahydrobiopterin
- Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
- Phenylketonuria II
- DHPR Deficiency
- Deficiency, DHPR
- Dihydropteridine Reductase Deficiency
- Deficiency, Dihydropteridine Reductase
- Dihydropteridine Reductase Deficiency Disease
- Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
- Phenylketonuria, Atypical
- Atypical Phenylketonuria
- PKU, Atypical
- Atypical PKU
- QDPR Deficiency
- Deficiency, QDPR
- Quinoid Dihydropteridine Reductase Deficiency
- Hyperphenylalaninemia, BH4-Deficient, C
- Deficiency Disease, Dihydropteridine Reductase
- Phenylketonuria Type 2
- Phenylketonuria I
- Deficiency Disease, Phenylalanine Hydroxylase, Severe
- Folling Disease
- Disease, Folling
- Folling's Disease
- Disease, Folling's
- Phenylketonuria, Classical
- Classical Phenylketonuria
- PAH Deficiency
- Deficiency, PAH
- Phenylalanine Hydroxylase Deficiency
- Deficiency, Phenylalanine Hydroxylase
- Phenylalanine Hydroxylase Deficiency Disease
- Phenylalanine Hydroxylase Deficiency Disease, Severe
- Deficiency Disease, Phenylalanine Hydroxylase
- Oligophrenia Phenylpyruvica
Below are MeSH descriptors whose meaning is more general than "Phenylketonurias".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Phenylketonurias [C10.228.140.163.100.687]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Phenylketonurias [C16.320.565.100.766]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Phenylketonurias [C16.320.565.189.687]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Phenylketonurias [C18.4184.108.40.2067]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Phenylketonurias [C18.452.648.100.766]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Phenylketonurias [C18.452.648.189.687]
Below are MeSH descriptors whose meaning is more specific than "Phenylketonurias".
This graph shows the total number of publications written about "Phenylketonurias" by people in this website by year, and whether "Phenylketonurias" was a major or minor topic of these publications.
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Below are the most recent publications written about "Phenylketonurias" by people in Profiles.
Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122.
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. J Hum Genet. 2009 Jun; 54(6):335-9.
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. J Inherit Metab Dis. 2009 Feb; 32(1):10-21.
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Genet Metab. 2007 Jul; 91(3):218-27.
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep; 53(3):768-74.
Recent developments in neonatal screening. Semin Perinatol. 1985 Apr; 9(3):232-49.
Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18.