Citrullinemia type II
- Synonyms
- Citrullinemia type 2
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Takeyori Saheki
- Yuan-Zong Song
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (50 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
Elevated circulating alanine aminotransferase concentration
- MedGen UID: 57740
- Concept ID: C0151905
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated gamma-glutamyltransferase level
Elevated gamma-glutamyltransferase level
- MedGen UID: 1370086
- Concept ID: C4476869
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated plasma citrulline
Elevated plasma citrulline
- MedGen UID: 868699
- Concept ID: C4023102
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperammonemia
Hyperammonemia
- MedGen UID: 1802066
- Concept ID: C5574662
- Finding: Laboratory or Test Result
Abnormality of metabolism/homeostasis
- Hyperargininemia
Hyperargininemia
- MedGen UID: 1733308
- Concept ID: C5399765
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
- Abnormality of the digestive system
- Ballooning hepatocyte degeneration
Ballooning hepatocyte degeneration
- MedGen UID: 1743374
- Concept ID: C5421675
- Finding: Cell or Molecular Dysfunction
Abnormality of the digestive system
- Hepatic fibrosis
Hepatic fibrosis
- MedGen UID: 116093
- Concept ID: C0239946
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatocellular carcinoma
Hepatocellular carcinoma
- MedGen UID: 389187
- Concept ID: C2239176
- Finding: Neoplastic Process
Abnormality of the digestive system
- Portal inflammation
Portal inflammation
- MedGen UID: 412612
- Concept ID: C2748698
- Finding: Pathologic Function
Abnormality of the digestive system
- Ballooning hepatocyte degeneration
- Abnormality of the genitourinary system
- Argininosuccinate lyase deficiency
Argininosuccinate lyase deficiency
- MedGen UID: 78687
- Concept ID: C0268547
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Argininosuccinate lyase deficiency
- Abnormality of the immune system
- Pancreatitis
Pancreatitis
- MedGen UID: 14586
- Concept ID: C0030305
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pancreatitis
- Abnormality of the nervous system
- Cerebral edema
Cerebral edema
- MedGen UID: 2337
- Concept ID: C0006114
- Finding: Pathologic Function
Abnormality of the nervous system
- Coma
Coma
- MedGen UID: 1054
- Concept ID: C0009421
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Confusion
Confusion
- MedGen UID: 3587
- Concept ID: C0009676
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Protein craving
Protein craving
- MedGen UID: 1054055
- Concept ID: CN377934
- Finding: Finding
Abnormality of the nervous system
- Cerebral edema
- ACMG, ACT Sheet, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, [Elevated Citrulline], Amino Acidemia/Urea Cycle Disorder, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Elevated Citrulline: Amino Acidemia Algorithm, 2022
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