Skip to main content
SpringerLink
Log in

Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia

  • Short Communication
  • Published:
Metabolic Brain Disease Aims and scope Submit manuscript

Abstract

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  • Baranello G, Alfei E, Martinelli D, Rizzetto M, Cazzaniga F, Dionisi-Vici C, Gellera C, Castellotti B (2014) Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene. Pediatr Neurol 51:430–433

    Article  PubMed  Google Scholar 

  • Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L (2010) Neonatal cholestasis: an uncommon presentation of hyperargininemia. J Inherit Metab Dis 33(Suppl 3):S503–S506

    Article  PubMed  Google Scholar 

  • Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A (2011) Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? MolGenet Metab 104:107–111

    Article  CAS  Google Scholar 

  • King N, Alvizures R, García P, Wessel A, Rohloff P (2016) Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report. BMC Pediatr 16:142

    Article  PubMed  PubMed Central  Google Scholar 

  • Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW (2011) Argininemia presenting with progressive spastic diplegia. Pediatr Neurol 44:218–220

    Article  PubMed  Google Scholar 

  • Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL (2010) Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol 42:49–52

    Article  PubMed  PubMed Central  Google Scholar 

  • Schlune A, Vom Dahl S, Häussinger D, Ensenauer R, Mayatepek E (2015) Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. Amino Acids 47:1751–1762

    Article  CAS  PubMed  Google Scholar 

  • Tsang JP, Poon WL, Luk HM, Fung CW, Ching CK, Mak CM, Lam CW, Siu TS, Tam S, Wong VC (2012) Arginase deficiency with new phenotype and a novel mutation: contemporary summary. Pediatr Neurol 47:263–269

    Article  PubMed  Google Scholar 

  • Zhang Y, Landau YE, Miller DT, Marsden D, Berry GT, Kellogg MD (2012) Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. ClinBiochem 45:1583–1586

    CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Babur Caddesi No. 44, 06080, Altındag, Ankara, Turkey

    Husniye Yucel, Meltem Akcaboy & Saliha Senel

  2. Department of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey

    Çiğdem Seher Kasapkara

  3. Department of Pediatric Neurology, Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey

    Erhan Aksoy

  4. Department of Pediatric Gastroenterology, Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey

    Gülseren Evirgen Sahin

  5. Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey

    Betul Emine Derinkuyu

  6. Intergen Genetic Center, Ankara, Turkey

    Serdar Ceylaner

Authors
  1. Husniye Yucel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Çiğdem Seher Kasapkara
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Meltem Akcaboy
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Erhan Aksoy
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Gülseren Evirgen Sahin
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Betul Emine Derinkuyu
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Saliha Senel
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Serdar Ceylaner
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Meltem Akcaboy.

Ethics declarations

Conflict of interest

Authors declare that they have no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Yucel, H., Kasapkara, Ç.S., Akcaboy, M. et al. Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia. Metab Brain Dis 33, 1775–1778 (2018). https://doi.org/10.1007/s11011-018-0281-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11011-018-0281-8

Keywords

Search

Navigation