Citrullinemia

A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

Also Known As:

Argininosuccinic Acid Synthase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease, Partial; Argininosuccinic Acid Synthetase Deficiency, Complete; Citrullinemia, Classical; Citrullinemia, Late-Onset; Citrullinemia, Neonatal; Citrullinemia, Type I; Citrullinuria; Complete Argininosuccinic Acid Synthetase Deficiency Disease; Deficiency, Argininosuccinic Acid Synthetase, Complete; Deficiency, Argininosuccinic Acid Synthetase, Partial; Partial Argininosuccinic Acid Synthetase Deficiency Disease; ASS Deficiencies; Argininosuccinate Synthetase Deficiencies; Citrullinemia, Late Onset; Citrullinemias; Citrullinemias, Classic; Citrullinurias; Classic Citrullinemia; Classic Citrullinemias; Classical Citrullinemia; Classical Citrullinemias; Deficiencies, Argininosuccinate Synthetase; Deficiency, ASS; Deficiency, Argininosuccinate Synthetase; Late-Onset Citrullinemia; Late-Onset Citrullinemias; Neonatal Citrullinemia; Neonatal Citrullinemias; Type I Citrullinemia; Type I Citrullinemias; ASS Deficiency; Argininosuccinate Synthase Deficiency Disease; Argininosuccinate Synthetase Deficiency; Argininosuccinic Acid Synthetase Deficiency; Citrullinemia 1; Citrullinemia Type 1; Citrullinemia, Classic; Deficiency Disease, Argininosuccinate Synthase; Deficiency Disease, Argininosuccinic Acid Synthase

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Inborn Urea Cycle Disorders: 569
        Citrullinemia: 352
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        Citrullinemia: 352
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 569
        Citrullinemia: 352
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        Citrullinemia: 352
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 569
        Citrullinemia: 352
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        Citrullinemia: 352

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