Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
...
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Preferred term
Phenylketonurias
Type
-
Topical Descriptor
Narrower concepts
Entry terms
- Phenylketonuria
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).
History note
- 2000(1974)
In other languages
-
Finnish
-
fenylketonuriat
-
fenyyliketonuria
-
klassinen fenylketonuria
-
klassisk fenylketonuri
-
phenylketonuria
-
phenylketonuria classica
-
PKU
-
Swedish
-
Atypisk PKU
-
Fenylketonuri type 2
-
Föllings sjukdom
-
PKU
URI
http://www.yso.fi/onto/mesh/D010661
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