MeSH Browser

MeSH Heading: Phenylketonurias
Tree 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
Unique ID: D010661
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D010661
Scope Note: 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).
Entry Version: PKU
Entry Term(s): BH4 Deficiency; Biopterin Deficiency; DHPR Deficiency; Deficiency Disease, Dihydropteridine Reductase; Deficiency Disease, Phenylalanine Hydroxylase; Deficiency Disease, Phenylalanine Hydroxylase, Severe; Dihydropteridine Reductase Deficiency; Dihydropteridine Reductase Deficiency Disease; Folling Disease; Folling's Disease; HPABH4C; Hyperphenylalaninaemia; Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism; Hyperphenylalaninemia, BH4-Deficient, C; Hyperphenylalaninemia, Non-Phenylketonuric; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency; Non-Phenylketonuric Hyperphenylalaninemia; Oligophrenia Phenylpyruvica; PAH Deficiency; PKU, Atypical; Phenylalanine Hydroxylase Deficiency; Phenylalanine Hydroxylase Deficiency Disease; Phenylalanine Hydroxylase Deficiency Disease, Severe; Phenylketonuria; Phenylketonuria I; Phenylketonuria II; Phenylketonuria Type 2; Phenylketonuria, Atypical; Phenylketonuria, Classical; QDPR Deficiency; Quinoid Dihydropteridine Reductase Deficiency; Tetrahydrobiopterin Deficiency
NLM Classification #: QU 265.5.A5
See Also: Dihydropteridine Reductase; Phenylalanine Hydroxylase
Public MeSH Note: 2000; see PHENYLKETONURIA 1974-1999
History Note: 2000(1974)
Date Established: 2000/01/01
Date of Entry: 1999/01/01
Revision Date: 2023/02/26

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Phenylketonuria, Maternal [C10.228.140.163.100.687.500]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

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]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Metabolism, Inborn Errors [C18.452.648.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Phenylketonurias Preferred

Phenylketonuria II Narrower

Hyperphenylalaninemia, Non-Phenylketonuric Related

Phenylketonuria I Narrower

Hyperphenylalaninaemia Narrower

Phenylketonurias MeSH Descriptor Data 2025