Citrullinemia, Type Ii, Adult-onset; Ctln2

Description

Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to Citrullinemia, Type Ii, Adult-onset; Ctln2

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea
  • Obesity
  • Hyperactivity
  • Elevated hepatic transaminase
  • Carcinoma
  • Aggressive behavior

And another 29 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Citrullinemia, Type Ii, Adult-onset; Ctln2 Is also known as citrin deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Citrullinemia, Type Ii, Adult-onset; Ctln2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
SLC25A13 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
Specificity
100 %
Genes
100 %
SLC25A13 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
Specificity
100 %
Genes
100 %
SLC25A13 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
Specificity
100 %
Genes
100 %
SLC25A13 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Cholestasis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SLC25A13, ATP8B1, AKR1D1, ABCB4, JAG1
Specificity
20 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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