Neonatal-onset citrullinemia type 2

An autosomal recessive metabolic disorder characterized by poor growth, INTRAHEPATIC CHOLESTASIS, and citrullinemia. Most patients show spontaneous improvement by 1 year of age; others may have a progressive course with continued failure to thrive and DYSLIPIDEMIA caused by citrin deficiency, and some may develop chronic or fatal LIVER DISEASE. Mutations in the SLC25A13 gene have been identified. OMIM: 605814

Also Known As:

Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency; Citrullinemia, Type II, Neonatal-Onset; NICCD; Neonatal intrahepatic cholestasis caused by citrin deficiency; Neonatal-onset citrullinemia type II

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Inborn Urea Cycle Disorders: 583
        Citrullinemia: 361
        Neonatal-onset citrullinemia type 2: 90
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 583
        Citrullinemia: 361
        Neonatal-onset citrullinemia type 2: 90
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 583
        Citrullinemia: 361
        Neonatal-onset citrullinemia type 2: 90
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 583
        Citrullinemia: 361
        Neonatal-onset citrullinemia type 2: 90
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 583
        Citrullinemia: 361
        Neonatal-onset citrullinemia type 2: 90
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 583
        Citrullinemia: 361
        Neonatal-onset citrullinemia type 2: 90

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Disease

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