"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
|
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
|
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
|
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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2013 | 1 | 0 | 1 |
2016 | 1 | 0 | 1 |
2022 | 1 | 0 | 1 |
2023 | 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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Total choline intake and working memory performance in adults with phenylketonuria. Orphanet J Rare Dis. 2023 07 29; 18(1):222.
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Characterization of Choline Nutriture among Adults and Children with Phenylketonuria. Nutrients. 2022 Sep 29; 14(19).
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Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency. J Inherit Metab Dis. 2016 05; 39(3):363-372.
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Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride. Health Qual Life Outcomes. 2013 Dec 30; 11:218.