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Phenylketonurias (CUI C0031485) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0031485

NCI Thesaurus Code: C81315  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.

MEDLINEPLUS Definition: 

Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.

The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food.

Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.

NIH: National Institute of Child Health and Human Development

NCI-GLOSS Definition: An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine.

MSH Definition: 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).

Synonyms & Abbreviations: (see Synonym Details)
Phenylketonurias [Disease/Finding]
Phenylketonurias
Phenylketonuria
PKU

External Source Codes: 
NCI Thesaurus Code C81315 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
AN GEN: prefer specifics; note X refs: consider also PHENYLALANINE HYDROXYLASE /defic and DIHYDROPTERIDINE REDUCTASE /defic; DF: PKU MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
Contributing_Source NICHD NCI
DATE_CREATED 11/16/2000 MEDLINEPLUS
DC 1 MSH
DX 20000101 MSH
EXTERNALLY_DEFINED N LNC
FX D004093 MSH
FX D010651 MSH
GLOBAL_ID 7573000 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HN 2000(1974) MSH
MDA 19990101 MSH
MESH_DEFINITION 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). NDFRT
MESH_DUI D010661 NDFRT
MESH_NAME Phenylketonurias NDFRT
MESH_UI M0016567 NDFRT
MMR 20130708 MSH
MN C10.228.140.163.100.687 MSH
MN C16.320.565.100.766 MSH
MN C16.320.565.189.687 MSH
MN C18.452.132.100.687 MSH
MN C18.452.648.100.766 MSH
MN C18.452.648.189.687 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/phenylketonuria.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Arabic https://www.nlm.nih.gov/medlineplus/languages/phenylketonuria.html#Arabic MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/phenylketonuria.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Child Health and Human Development http://www.nichd.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Phenylketonuria NCI
NUI N0000002389 NDFRT
PM 2000; see PHENYLKETONURIA 1974-1999 MSH
RXAUI 3219917 RXNORM
RXAUI 3219927 RXNORM
RXAUI 3219928 RXNORM
RXCUI 1023735 RXNORM
TERMUI T031507 MSH
TERMUI T364716 MSH
TH BIOETHICS (1974) MSH
TH GHR (2014) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0031485

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