Phosphoserine Aminotransferase Deficiency

Also Known As:

PSAT Deficiency

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Nitrogenous Group Transferases
      - Transaminases: 11056
        Phosphoserine Aminotransferase Deficiency: 2
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Microcephaly: 1471
      - Phosphoserine Aminotransferase Deficiency: 2
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Seizures: 41747
    - Phosphoserine Aminotransferase Deficiency: 2
  - Neurobehavioral Manifestations: 1586
    - Psychomotor Disorders: 231
      - Phosphoserine Aminotransferase Deficiency: 2
- Nervous System Malformations: 35
  - Malformations of Cortical Development: 376
    - Group I Malformations of Cortical Development
      - Microcephaly: 1471
        Phosphoserine Aminotransferase Deficiency: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Microcephaly: 1471
        Phosphoserine Aminotransferase Deficiency: 2
  - Nervous System Malformations: 35
    - Malformations of Cortical Development: 376
      - Group I Malformations of Cortical Development
        Microcephaly: 1471
        Phosphoserine Aminotransferase Deficiency: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Seizures: 41747
      - Phosphoserine Aminotransferase Deficiency: 2
    - Neurobehavioral Manifestations: 1586
      - Psychomotor Disorders: 231
        Phosphoserine Aminotransferase Deficiency: 2
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Psychomotor Disorders: 231
    - Phosphoserine Aminotransferase Deficiency: 2

Experts

1.	Brown, Laura H: 1 article (01/2021)
2.	Cowen, Edward W: 1 article (01/2021)
3.	Debs, Sarah: 1 article (01/2021)
4.	Ferreira, Carlos R: 1 article (01/2021)
5.	Gahl, William A: 1 article (01/2021)
6.	Groden, Catherine: 1 article (01/2021)
7.	Kim, H Jeffrey: 1 article (01/2021)
8.	King, Kelly A: 1 article (01/2021)
9.	King, Monique C: 1 article (01/2021)
10.	Lehky, Tanya: 1 article (01/2021)

Related Diseases

1.	Microcephaly 03/01/2020 - "PSAT deficiency should be considered for patients with congenital microcephaly. " 03/01/2020 - "Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly."
2.	Ichthyosis (Xeroderma) 01/01/2021 - "A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. "
3.	Contracture 01/01/2021 - "A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. "