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Acute neonatal citrullinemia type I

MedGen UID:
1843387
•Concept ID:
C5679618
•
Disease or Syndrome
Synonyms: Acute neonatal citrullinemia type 1; acute neonatal citrullinemia type 1; acute neonatal citrullinemia type I; classic citrullinemia type 1; Classic citrullinemia type 1; Classic citrullinemia type I; classic citrullinemia type I
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016600
Orphanet: ORPHA247546

Definition

A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute neonatal citrullinemia type I

Recent clinical studies

Etiology

Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y
J Pediatr Endocrinol Metab 2023 Dec 15;36(12):1154-1160. Epub 2023 Nov 10 doi: 10.1515/jpem-2023-0026. PMID: 37939726
Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.
Lopes FF, Sitta A, de Moura Coelho D, Ribas GS, Faverzani JL, Dos Reis BG, Wajner M, Vargas CR
Int J Dev Neurosci 2022 Dec;82(8):772-788. Epub 2022 Sep 30 doi: 10.1002/jdn.10229. PMID: 36129623
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
Moreira-Silva H, Maio I, Bandeira A, Gomes-Martins E, Santos-Silva E
Eur J Pediatr 2019 Apr;178(4):515-523. Epub 2019 Jan 28 doi: 10.1007/s00431-019-03328-5. PMID: 30693370
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
Lee BH, Kim YM, Heo SH, Kim GH, Choi IH, Lee BS, Kim EA, Kim KS, Jhang WK, Park SJ, Yoo HW
Mol Genet Metab 2013 Jan;108(1):18-24. Epub 2012 Nov 28 doi: 10.1016/j.ymgme.2012.11.011. PMID: 23246278
The implementation of neonatal peritoneal dialysis in a clinical setting.
Unal S, Bilgin L, Gunduz M, Uncu N, Azili MN, Tiryaki T
J Matern Fetal Neonatal Med 2012 Oct;25(10):2111-4. Epub 2012 Mar 16 doi: 10.3109/14767058.2012.665105. PMID: 22420616

Diagnosis

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.
Sachs N, Wechsberg O, Landau YE, Krause I, Elgali II, Darawshe M, Shomron N, Lidzbarsky G, Orenstein N
Gene 2023 Jul 20;874:147483. Epub 2023 May 15 doi: 10.1016/j.gene.2023.147483. PMID: 37196891
Adult-Onset Type 1 Citrullinemia Presenting as Postpartum Acute Liver Failure.
Wykowski J, Keller C, Kucybala K
Am J Med 2022 Jan;135(1):e22-e23. Epub 2021 Sep 22 doi: 10.1016/j.amjmed.2021.08.024. PMID: 34560033
Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia.
Saini AG, Attri S, Sankhyan N, Singhi P
BMJ Case Rep 2018 Apr 25;2018 doi: 10.1136/bcr-2017-220193. PMID: 29695388Free PMC Article
Acute hepatic decompensation precipitated by pregnancy-related catabolic stress: a rare mimic of acute liver failure.
Sinclair M, Ket S, Testro A, Gow PJ, Angus PW
Obstet Gynecol 2014 Feb;123(2 Pt 2 Suppl 2):480-483. doi: 10.1097/AOG.000000000000005. PMID: 24413235
Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.
Karthikeyan G, Jagadeesh S, Seshadri S, Häberle J
Indian Pediatr 2013 Oct;50(10):965-6. doi: 10.1007/s13312-013-0239-1. PMID: 24222285

Therapy

Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia.
Saini AG, Attri S, Sankhyan N, Singhi P
BMJ Case Rep 2018 Apr 25;2018 doi: 10.1136/bcr-2017-220193. PMID: 29695388Free PMC Article
The implementation of neonatal peritoneal dialysis in a clinical setting.
Unal S, Bilgin L, Gunduz M, Uncu N, Azili MN, Tiryaki T
J Matern Fetal Neonatal Med 2012 Oct;25(10):2111-4. Epub 2012 Mar 16 doi: 10.3109/14767058.2012.665105. PMID: 22420616
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
de Groot MJ, Cuppen M, Eling M, Verheijen FW, Rings EH, Reijngoud DJ, de Vries MM, van Spronsen FJ
J Inherit Metab Dis 2010 Dec;33 Suppl 3(Suppl 3):S413-6. Epub 2010 Sep 18 doi: 10.1007/s10545-010-9207-2. PMID: 20852933Free PMC Article

Prognosis

ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response.
Lim LQJ, Adler L, Hajaj E, Soria LR, Perry RB, Darzi N, Brody R, Furth N, Lichtenstein M, Bab-Dinitz E, Porat Z, Melman T, Brandis A, Malitsky S, Itkin M, Aylon Y, Ben-Dor S, Orr I, Pri-Or A, Seger R, Shaul Y, Ruppin E, Oren M, Perez M, Meier J, Brunetti-Pierri N, Shema E, Ulitsky I, Erez A
Nat Metab 2024 Jul;6(7):1294-1309. Epub 2024 Jun 10 doi: 10.1038/s42255-024-01060-5. PMID: 38858597Free PMC Article
Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y
J Pediatr Endocrinol Metab 2023 Dec 15;36(12):1154-1160. Epub 2023 Nov 10 doi: 10.1515/jpem-2023-0026. PMID: 37939726
Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.
Karthikeyan G, Jagadeesh S, Seshadri S, Häberle J
Indian Pediatr 2013 Oct;50(10):965-6. doi: 10.1007/s13312-013-0239-1. PMID: 24222285
Transient fulminant liver failure as an initial presentation in citrullinemia type I.
Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A
Mol Genet Metab 2011 Apr;102(4):413-7. Epub 2010 Dec 16 doi: 10.1016/j.ymgme.2010.12.007. PMID: 21227727
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
de Groot MJ, Cuppen M, Eling M, Verheijen FW, Rings EH, Reijngoud DJ, de Vries MM, van Spronsen FJ
J Inherit Metab Dis 2010 Dec;33 Suppl 3(Suppl 3):S413-6. Epub 2010 Sep 18 doi: 10.1007/s10545-010-9207-2. PMID: 20852933Free PMC Article

Clinical prediction guides

Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y
J Pediatr Endocrinol Metab 2023 Dec 15;36(12):1154-1160. Epub 2023 Nov 10 doi: 10.1515/jpem-2023-0026. PMID: 37939726
Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes.
Ruder J, Legacy J, Russo G, Davis R
Pediatr Neurol 2014 Oct;51(4):553-6. Epub 2014 Jul 16 doi: 10.1016/j.pediatrneurol.2014.07.010. PMID: 25266618
Transient fulminant liver failure as an initial presentation in citrullinemia type I.
Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A
Mol Genet Metab 2011 Apr;102(4):413-7. Epub 2010 Dec 16 doi: 10.1016/j.ymgme.2010.12.007. PMID: 21227727
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
de Groot MJ, Cuppen M, Eling M, Verheijen FW, Rings EH, Reijngoud DJ, de Vries MM, van Spronsen FJ
J Inherit Metab Dis 2010 Dec;33 Suppl 3(Suppl 3):S413-6. Epub 2010 Sep 18 doi: 10.1007/s10545-010-9207-2. PMID: 20852933Free PMC Article
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG
Mol Genet Metab 2003 Nov;80(3):302-6. doi: 10.1016/j.ymgme.2003.08.002. PMID: 14680976

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG, ACT Sheet, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, [Elevated Citrulline], Amino Acidemia/Urea Cycle Disorder, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Elevated Citrulline: Amino Acidemia Algorithm, 2022

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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