Concept information
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Genetic Diseases, Inborn
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Phenylketonurias
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Metabolic Diseases
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Phenylketonurias
Preferred term
Phenylketonuria, Maternal
Type
-
Topical Descriptor
Broader concept
Entry terms
- Maternal Phenylalanine Hydroxylase Deficiency Disease
- Maternal Phenylketonuria
- Phenylalanine Hydroxylase Deficiency Disease, Maternal
- Phenylalanine-Hydroxylase Deficiency Disease, Maternal
- Phenylketonuria, Pregnancy in
- PKU, Maternal
- Pregnancy in Phenylketonuria
Note
- check the tags PREGNANCY & FEMALE; consider also PHENYLALANINE HYDROXYLASE /defic
Scope note
- A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)
History note
- 1992
In other languages
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Finnish
-
maternaalinen fenyyliketonuria
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maternaalinen PKU
-
äidin PKU
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Swedish
-
Maternell PKU
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PKU, maternell
URI
http://www.yso.fi/onto/mesh/D017042
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