Phenylketonuria

Preferred Label : Phenylketonuria;

Symbol : PKU;

CISMeF acronym : PKU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phenylalanine hydroxylase deficiency; Pah deficiency; Oligophrenia phenylpyruvica; Folling disease;

Included titles and symbols : Hyperphenylalaninemia, non-pku mild; Hpa, non-pku mild; Phenylketonuria, maternal;

Description : Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), an enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (Zurfluh et al., 2008). See Scriver (2007) and Blau et al. (2010) for detailed reviews of PKU.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phenylalanine hydroxylase gene (PAH, 261600.0001);

Laboratory abnormalities : Increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine;

Prefixed ID : #261600;

Details

Origin ID

261600;

UMLS CUI

C0751434;

Automatic exact mappings (from CISMeF team)
- Embryofetopathy due to maternal phenylketonuria [ICD-11 Sub-sub category]
- Maternal phenylketonuria (disorder) [SNOMED CT concept]
- Reduced phenylalanine hydroxylase level [HPO term]
- classical phenylketonuria [Artificial nutrition thesaurus concept]
- hyperphenylalaninemia, Non-Pku mild [MeSH concept]
- hyperphenylalaninemia, Non-Pku mild [MeSH Supplementary Concept]
- phenylketonuria [EMDN type]
- phenylketonuria, maternal [MeSH concept]
- phenylketonuria, maternal [MeSH Descriptor]
Currated CISMeF NLP mapping
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- PHENYLKETONURIA [WHO-ART Preferred Term]
- PKU [MedDRA LLT]
- Phenylketonuria [PASCAL descriptor]
- Phenylketonuria [ICD-11 Subcategory]
- Phenylketonuria [MedDRA Preferred Term]
- Phenylketonuria [NCIt concept]
- Phenylketonuria [ORDO Disease]
- Phenylketonuria [ACR pathology]
- Phenylketonuria (PKU) [MedDRA LLT]
- Phenylketonuria [PKU] [ICD-9 code]
- classical phenylketonuria [SNOMED Notion]
- phenylketonuria [DO Concept]
- phenylketonuria [Disease (Nov.)]
- phenylketonuria [MedlinePlus Topic]
- phenylketonuria I [MeSH concept]
- phenylketonurias [MeSH Descriptor]
- phenylketonurias [MeSH concept]
DO Cross reference
- phenylketonuria [DO Concept]
Genes related to phenotype
- Phenylalanine hydroxylase [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blond hair [HPO term]
- Blue irides [HPO term]
- Cataract [HPO term]
- Cerebral calcification [HPO term]
- Depression [HPO term]
- Dry skin [HPO term]
- Eczema [HPO term]
- Fair hair [HPO term]
- Generalized hypopigmentation [HPO term]
- Hyperactivity [HPO term]
- Hyperphenylalaninemia [HPO term]
- Hyperreflexia [HPO term]
- Increased level of hippuric acid in urine [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Maternal hyperphenylalaninemia [HPO term]
- Microcephaly [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Phenylpyruvic acidemia [HPO term]
- Prenatal maternal abnormality [HPO term]
- Psychosis [HPO term]
- Reduced phenylalanine hydroxylase level [HPO term]
- Scleroderma [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
ORDO concept(s)
- Maternal phenylketonuria [ORDO Disease]
- Phenylketonuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic phenylketonuria [ORDO Disease]
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria [ICD-10 Sub-category (who)]
- Classical phenylketonuria [ICD-10 Sub-category]
- Classical phenylketonuria [ICD-11 Sub-sub category]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- Phenylpyruvic oligophrenia [MedDRA LLT]
- classical phenylketonuria [SNOMED Notion]
- phenylketonuria I [MeSH concept]
Validated automatic mappings to BTNT
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria [ICD-11 Sub-sub category]
- Maternal phenylketonuria [ORDO Disease]
- maternal phenylketonuria [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients