"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.
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.
Allard P, Cowell LD, Zytkovicz TH, Korson MS, Ampola MG. Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer. Clin Biochem. 2004 Oct; 37(10):857-62.
Kikuchi A, Takeda A, Fujihara K, Kimpara T, Shiga Y, Tanji H, Nagai M, Ichinose H, Urano F, Okamura N, Arai H, Itoyama Y. Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report. Mov Disord. 2004 May; 19(5):590-3.
Mihalick SM, Langlois JC, Krienke JD, Dube WV. An olfactory discrimination procedure for mice. J Exp Anal Behav. 2000 May; 73(3):305-18.