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Descriptor English: Phenylketonuria, Maternal
Descriptor Spanish: Fenilcetonuria Materna
Descriptor fenilcetonuria materna
Entry term(s) embarazo en fenilcetonuria
enfermedad por deficiencia materna de fenilalanina hidroxilasa
Scope note: Afección materna que se produce en mujeres fenilcetonúricas no tratadas o parcialmente tratadas cuando tienen un embarazo. Puede originar daño fetal, como microcefalia, retraso mental, cardiopatía congénita, retraso en el desarrollo intrauterino y anomalías craneofaciales. (Am J Med enet 1997 Mar 3;69(1):89-95)
Descriptor Portuguese: Fenilcetonúria Materna
Descriptor French: Phénylcétonurie maternelle
Entry term(s): Maternal Phenylalanine Hydroxylase Deficiency Disease
Maternal Phenylketonuria
PKU, Maternal
Phenylalanine Hydroxylase Deficiency Disease, Maternal
Phenylalanine-Hydroxylase Deficiency Disease, Maternal
Phenylketonuria, Pregnancy in
Pregnancy in Phenylketonuria
Tree number(s): C10.228.140.163.100.687.500
C12.050.703.575
C16.320.565.100.766.500
C16.320.565.189.687.500
C18.452.132.100.687.500
C18.452.648.100.766.500
C18.452.648.189.687.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D017042
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)
Annotation: check the tags PREGNANCY & FEMALE; consider also PHENYLALANINE HYDROXYLASE /defic
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
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
Previous Indexing: Phenylketonuria (1966-1991)
Public MeSH Note: 1992
History Note: 1992
Entry Version: PKU MATERNAL
Related: Phenylalanine Hydroxylase MeSH
DeCS ID: 29896
Unique ID: D017042
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1992/01/01
Date of Entry: 1991/05/30
Revision Date: 2017/06/20
Phenylketonuria, Maternal - Preferred
Concept UI M0025897
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)
Preferred term Phenylketonuria, Maternal
Entry term(s) Maternal Phenylalanine Hydroxylase Deficiency Disease
Maternal Phenylketonuria
PKU, Maternal
Phenylalanine Hydroxylase Deficiency Disease, Maternal
Phenylalanine-Hydroxylase Deficiency Disease, Maternal
Phenylketonuria, Pregnancy in
Pregnancy in Phenylketonuria



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