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 this website by year, and whether "Phenylketonurias" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2000 | 1 | 0 | 1 | 2003 | 1 | 0 | 1 | 2005 | 0 | 1 | 1 | 2010 | 0 | 1 | 1 | 2012 | 3 | 0 | 3 | 2013 | 1 | 0 | 1 | 2015 | 1 | 1 | 2 | 2016 | 2 | 0 | 2 | 2017 | 1 | 0 | 1 | 2018 | 1 | 0 | 1 | 2020 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Phenylketonurias" by people in Profiles.
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Koppes EA, Redel BK, Johnson MA, Skvorak KJ, Ghaloul-Gonzalez L, Yates ME, Lewis DW, Gollin SM, Wu YL, Christ SE, Yerle M, Leshinski A, Spate LD, Benne JA, Murphy SL, Samuel MS, Walters EM, Hansen SA, Wells KD, Lichter-Konecki U, Wagner RA, Newsome JT, Dobrowolski SF, Vockley J, Prather RS, Nicholls RD. A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing. JCI Insight. 2020 10 15; 5(20).
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Ross LF, Paul DB. 50 Years Ago in The Journal of Pediatrics: Variability in the Manifestations of Phenylketonuria/Transient Hyperphenylalaninemia. J Pediatr. 2018 04; 195:65.
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Paul DB, Ross LF. 50 Years Ago in The Journal of Pediatrics: Conference on Treatment of Phenylketonuria. J Pediatr. 2017 01; 180:169.
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Paul DB, Ross LF. 50 Years Ago in TheJournal ofPediatrics: Evaluation of the Effects of Terminating the Diet in Phenylketonuria. J Pediatr. 2016 10; 177:113.
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Paul DB, Brosco JP, Ross LF. 50 Years Ago in TheJournal ofPediatrics: Legislation and Advances in Medical Knowledge-Acceleration or Inhibition? J Pediatr. 2016 08; 175:53.
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Ross LF, Paul DB, Brosco JP. 50 Years Ago in The Journal of Pediatrics: Phenylketonuria in a Negro Infant. J Pediatr. 2015 Aug; 167(2):304.
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Brosco JP, Grosse SD, Ross LF. Universal state newborn screening programs can reduce health disparities. JAMA Pediatr. 2015 Jan; 169(1):7-8.
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Yu L, Vásquez-Vivar J, Jiang R, Luo K, Derrick M, Tan S. Developmental susceptibility of neurons to transient tetrahydrobiopterin insufficiency and antenatal hypoxia-ischemia in fetal rabbits. Free Radic Biol Med. 2014 Feb; 67:426-36.
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Ross LF. 50 years ago in the Journal of Pediatrics: comparison of serum phenylalanine levels with growth in Guthrie's inhibition assay in newborn infants. J Pediatr. 2012 Sep; 161(3):530.
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Ross LF. 50 years ago in the Journal of Pediatrics: identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses. J Pediatr. 2012 Sep; 161(3):487.
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