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
- 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- Phenylketonuria II
- DHPR Deficiency
- Deficiency, DHPR
- Dihydropteridine Reductase Deficiency
- Deficiency, Dihydropteridine Reductase
- Dihydropteridine Reductase Deficiency Disease
- HPABH4C
- 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- 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
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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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1995 | 1 | 0 | 1 | 2000 | 1 | 0 | 1 | 2006 | 1 | 0 | 1 | 2012 | 2 | 0 | 2 | 2016 | 1 | 0 | 1 | 2017 | 0 | 1 | 1 | 2021 | 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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Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 02; 132(2):119-127.
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Perkins R, Vaida V. Phenylalanine Increases Membrane Permeability. J Am Chem Soc. 2017 10 18; 139(41):14388-14391.
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Hinton CF, Homer CJ, Thompson AA, Williams A, Hassell KL, Feuchtbaum L, Berry SA, Comeau AM, Therrell BL, Brower A, Harris KB, Brown C, Monaco J, Ostrander RJ, Zuckerman AE, Kaye C, Dougherty D, Greene C, Green NS. A framework for assessing outcomes from newborn screening: on the road to measuring its promise. Mol Genet Metab. 2016 08; 118(4):221-9.
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Bernstein LE, Helm JR, Rocha JC, Almeida MF, Feillet F, Link RM, Gizewska M. Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys. J Hum Nutr Diet. 2014 Apr; 27 Suppl 2:4-11.
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Arnold CG. Two faces of patient advocacy: the current controversy in newborn screening. J Med Ethics. 2014 Aug; 40(8):558-62.
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Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol Genet Metab. 2013 Jan; 108(1):13-7.
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Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SE. High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8.
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Rice MJ, Records K. Comparative analysis of physiological adaptation of neonates of abused and nonabused mothers. J Forensic Nurs. 2008; 4(2):80-90.
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Weiss DJ, Dorris M, Loh A, Peterson L. Dehydrogenase based reagentless biosensor for monitoring phenylketonuria. Biosens Bioelectron. 2007 May 15; 22(11):2436-41.
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Acosta PB, Yannicelli S, Singh R, Mofidi S, Steiner R, DeVincentis E, Jurecki E, Bernstein L, Gleason S, Chetty M, Rouse B. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. J Am Diet Assoc. 2003 Sep; 103(9):1167-73.
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