 Phenylketonurias
"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).
| Descriptor ID |
D010661
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| MeSH Number(s) |
C10.228.140.163.100.687 C16.320.565.100.766 C16.320.565.189.687 C18.452.132.100.687 C18.452.648.100.766 C18.452.648.189.687
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| Concept/Terms |
Hyperphenylalaninemia, Non-Phenylketonuric- Hyperphenylalaninemia, Non-Phenylketonuric
- Hyperphenylalaninemia, Non Phenylketonuric
- Hyperphenylalaninemias, Non-Phenylketonuric
- Non-Phenylketonuric Hyperphenylalaninemia
- Non-Phenylketonuric Hyperphenylalaninemias
Phenylketonuria II- Phenylketonuria II
- Phenylketonuria IIs
- Phenylketonuria, Atypical
- Atypical Phenylketonuria
- Atypical Phenylketonurias
- Phenylketonurias, Atypical
- Phenylketonuria Type 2
- Phenylketonuria Type 2s
- Deficiency Disease, Dihydropteridine Reductase
- Dihydropteridine Reductase Deficiency Disease
Phenylketonuria I- Phenylketonuria I
- Phenylketonuria Is
- Oligophrenia Phenylpyruvica
- Oligophrenia Phenylpyruvicas
- Phenylpyruvica, Oligophrenia
- Phenylpyruvicas, Oligophrenia
- Phenylalanine Hydroxylase Deficiency
- Deficiencies, Phenylalanine Hydroxylase
- Deficiency, Phenylalanine Hydroxylase
- Hydroxylase Deficiencies, Phenylalanine
- Hydroxylase Deficiency, Phenylalanine
- Phenylalanine Hydroxylase Deficiencies
- Phenylalanine Hydroxylase Deficiency Disease
- Folling Disease
- Disease, Folling
- Diseases, Folling
- Folling Diseases
- Phenylketonuria, Classical
- Classical Phenylketonuria
- Classical Phenylketonurias
- Phenylketonurias, Classical
- Deficiency Disease, Phenylalanine Hydroxylase
- Deficiency Disease, Phenylalanine Hydroxylase, Severe
- Folling's Disease
- Disease, Folling's
- Phenylalanine Hydroxylase Deficiency Disease, Severe
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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 [C18.452.132.100.687]
- 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 Harvard Catalyst Profiles by year, and whether "Phenylketonurias" was a major or minor topic of these publication.
Below are the most recent publications written about "Phenylketonurias" by people in Profiles.
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Adler-Abramovich L, Vaks L, Carny O, Trudler D, Magno A, Caflisch A, Frenkel D, Gazit E. Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria. Nat Chem Biol. 2012 Aug; 8(8):701-6.
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Nagasaka H, Tsukahara H, Takatani T, Sanayama Y, Takayanagi M, Ohura T, Sakamoto O, Ito T, Wada M, Yoshino M, Ohtake A, Yorifuji T, Hirayama S, Miida T, Fujimoto H, Mochizuki H, Hattori T, Okano Y. Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening. J Bone Miner Metab. 2011 Nov; 29(6):737-43.
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Lagler FB, Gersting SW, Zsifkovits C, Steinbacher A, Eichinger A, Danecka MK, Staudigl M, Fingerhut R, Glossmann H, Muntau AC. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Biochem Pharmacol. 2010 Nov 15; 80(10):1563-71.
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White DA, Waisbren S, van Spronsen FJ. The psychology and neuropathology of phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S1-2.
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White DA, Waisbren S, van Spronsen FJ. Final commentary: a new chapter. Mol Genet Metab. 2010; 99 Suppl 1:S106-7.
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Brumm VL, Bilder D, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S59-63.
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Gentile JK, Ten Hoedt AE, Bosch AM. Psychosocial aspects of PKU: hidden disabilities--a review. Mol Genet Metab. 2010; 99 Suppl 1:S64-7.
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Koch R, Trefz F, Waisbren S. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab. 2010; 99 Suppl 1:S68-74.
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Waisbren S, White DA. Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic. Mol Genet Metab. 2010; 99 Suppl 1:S96-9.
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Talkowski ME, McClain L, Allen T, Bradford LD, Calkins M, Edwards N, Georgieva L, Go R, Gur R, Gur R, Kirov G, Chowdari K, Kwentus J, Lyons P, Mansour H, McEvoy J, O'Donovan MC, O'Jile J, Owen MJ, Santos A, Savage R, Toncheva D, Vockley G, Wood J, Devlin B, Nimgaonkar VL. Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5; 150B(4):560-9.
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