Maternal Phenylketonuria

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)

Also Known As:

Phenylketonuria, Maternal; PKU, Maternal; Phenylalanine-Hydroxylase Deficiency Disease, Maternal; Phenylalanine Hydroxylase Deficiency Disease, Maternal; Phenylketonuria, Pregnancy in; Maternal Phenylalanine Hydroxylase Deficiency Disease; Pregnancy in Phenylketonuria

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Phenylketonurias: 3454
        Maternal Phenylketonuria: 84
Urogenital Diseases: 126
- Female Urogenital Diseases and Pregnancy Complications
  - Pregnancy Complications: 2961
    - Maternal Phenylketonuria: 84
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Phenylketonurias: 3454
        Maternal Phenylketonuria: 84
    - Inborn Errors Amino Acid Metabolism: 1
      - Phenylketonurias: 3454
        Maternal Phenylketonuria: 84
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Phenylketonurias: 3454
        Maternal Phenylketonuria: 84
    - Inborn Errors Amino Acid Metabolism: 1
      - Phenylketonurias: 3454
        Maternal Phenylketonuria: 84
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Phenylketonurias: 3454
        Maternal Phenylketonuria: 84

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Drug/Important Bio-Agent (IBA)