| Descriptor English: | Phenylketonurias | ||||||
| Descriptor Spanish: |
Fenilcetonurias
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| Descriptor Portuguese: | Fenilcetonúrias | ||||||
| Descriptor French: | Phénylcétonuries | ||||||
| Entry term(s): |
Atypical PKU Atypical Phenylketonuria BH4 Deficiency Biopterin Deficiency Classical Phenylketonuria DHPR Deficiency Deficiency Disease, Dihydropteridine Reductase Deficiency Disease, Phenylalanine Hydroxylase Deficiency Disease, Phenylalanine Hydroxylase, Severe Deficiency, BH4 Deficiency, DHPR Deficiency, Dihydropteridine Reductase Deficiency, PAH Deficiency, Phenylalanine Hydroxylase Deficiency, QDPR Deficiency, Tetrahydrobiopterin Dihydropteridine Reductase Deficiency Dihydropteridine Reductase Deficiency Disease Disease, Folling Disease, Folling's Folling Disease Folling's Disease HPABH4C Hyperphenylalaninaemia Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism Hyperphenylalaninemia, BH4-Deficient, C Hyperphenylalaninemia, Non Phenylketonuric Hyperphenylalaninemia, Non-Phenylketonuric Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency Non Phenylketonuric Hyperphenylalaninemia Non-Phenylketonuric Hyperphenylalaninemia Non-Phenylketonuric Hyperphenylalaninemias 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 |
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| 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 |
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| RDF Unique Identifier: | https://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). |
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| Annotation: | GEN: prefer specifics; note X refs: consider also PHENYLALANINE HYDROXYLASE /defic and DIHYDROPTERIDINE REDUCTASE /defic; DF: PKU |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2000; see PHENYLKETONURIA 1974-1999 |
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| History Note: | 2000(1974) |
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| Entry Version: | PKU |
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| Related: |
Dihydropteridine Reductase
MeSH Phenylalanine Hydroxylase MeSH | ||||||
| DeCS ID: | 11086 | ||||||
| Unique ID: | D010661 | ||||||
| NLM Classification: | WD 205.5.A5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Phenylketonurias
- Preferred
Hyperphenylalaninemia, Non-Phenylketonuric
- Related but not broader or narrower
Phenylketonuria II
- Narrower
Hyperphenylalaninaemia
- Narrower
Phenylketonuria I
- Narrower
| Concept UI |
M0016567 |
| 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). |
| Preferred term | Phenylketonurias |
| Entry term(s) |
Phenylketonuria |
| Concept UI |
M0335853 |
| Preferred term | Hyperphenylalaninemia, Non-Phenylketonuric |
| Entry term(s) |
BH4 Deficiency Biopterin Deficiency Deficiency, BH4 Deficiency, Tetrahydrobiopterin Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism Hyperphenylalaninemia, Non Phenylketonuric Non Phenylketonuric Hyperphenylalaninemia Non-Phenylketonuric Hyperphenylalaninemia Non-Phenylketonuric Hyperphenylalaninemias Tetrahydrobiopterin Deficiency |
| Concept UI |
M0335852 |
| Preferred term | Phenylketonuria II |
| Entry term(s) |
Atypical PKU Atypical Phenylketonuria DHPR Deficiency Deficiency Disease, Dihydropteridine Reductase Deficiency, DHPR Deficiency, Dihydropteridine Reductase Deficiency, QDPR Dihydropteridine Reductase Deficiency Dihydropteridine Reductase Deficiency Disease HPABH4C Hyperphenylalaninemia, BH4-Deficient, C Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency PKU, Atypical Phenylketonuria Type 2 Phenylketonuria, Atypical QDPR Deficiency Quinoid Dihydropteridine Reductase Deficiency |
| Concept UI |
M0335856 |
| Preferred term | Hyperphenylalaninaemia |
| Concept UI |
M0335854 |
| Preferred term | Phenylketonuria I |
| Entry term(s) |
Classical Phenylketonuria Deficiency Disease, Phenylalanine Hydroxylase Deficiency Disease, Phenylalanine Hydroxylase, Severe Deficiency, PAH Deficiency, Phenylalanine Hydroxylase Disease, Folling Disease, Folling's Folling Disease Folling's Disease Oligophrenia Phenylpyruvica PAH Deficiency Phenylalanine Hydroxylase Deficiency Phenylalanine Hydroxylase Deficiency Disease Phenylalanine Hydroxylase Deficiency Disease, Severe Phenylketonuria, Classical |
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