Skip to main content
SpringerLink
Log in

Chronic Kidney Disease in an Adult with Propionic Acidemia

  • Case Report
  • Chapter
  • First Online:
JIMD Reports - Volume 12

Part of the book series: JIMD Reports ((JIMD,volume 12))

Abstract

We report an adult male with classic propionic acidemia (PA) who developed chronic kidney disease in the third decade of his life. This diagnosis was recognized by an increasing serum creatinine and confirmed by reduced glomerular filtration on a 99mTc-diethylenetriamine pentaacetate (DTPA) scan. Histopathology of the kidney showed moderate glomerulo- and tubulointerstitial fibrosis with very segmental mesangial IgA deposits. This is the second reported case of kidney disease in an individual with propionic acidemia possibly indicating that chronic kidney disease may be a late-stage complication of propionic acidemia. Additionally, this is the first description of the histopathology of kidney disease in an individual with propionic acidemia. As more cases emerge, the clinical course and spectrum of renal pathology in this disorder will be better defined.

Competing interests: None declared

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

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 16.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Baumgartner D, Scholl-Bürgi S, Sass JO et al (2007) Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 150:192–197

    Article  PubMed  Google Scholar 

  • Carrillo-Carrasco N, Venditti C (2012) Propionic Acidemia. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (eds) GeneReviewsâ„¢ [Internet]. University of Washington, Seattle; 1993–2012. Available from: http://www.ncbi.nlm.nih.gov/books/NBK92946/

  • Chandler RJ, Zerfas PM, Shanske S et al (2009) Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J 23:1252–1261

    Article  CAS  PubMed  Google Scholar 

  • D’Angio CT, Dillon MJ, Leonard JV (1991) Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 150:259–263

    Article  PubMed  Google Scholar 

  • de Baulny HO, Dionisi-Vici C, Wendel U (2012) Branched chain organic acidurias/acidaemias. In: Saudubray JM, van den Berghe G, Walter JH (eds) Inborn metabolic diseases- diagnosis and treatment. Springer, New York, pp 277–296

    Chapter  Google Scholar 

  • Desviat LR, Pérez B, Pérez-Cerdá C et al (2004) Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab 83:28–37

    Article  CAS  PubMed  Google Scholar 

  • Fenton WA, Grave RA, Rosenblatt DA (2001) Disorders of propionate and methylmalonate metabolism. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A (eds) The online metabolic & molecular bases of inherited disease [Internet]. Available from: http://www.ommbid.com/OMMBID/a/c.html/organic_acids/disorders_propionate_methylmalonate_metabolism

  • Grünert SC, Müllerleile S, de Silva L et al (2012) Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis 35:41–49

    Article  PubMed  Google Scholar 

  • Haas M (1997) Histologic subclassification of IgA nephropathy: a clinicopathologic study of 244 cases. Am J Kidney Dis 29:829–842

    Article  CAS  PubMed  Google Scholar 

  • Hörster F, Hoffmann GF (2004) Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 19:1071–1074

    Article  PubMed  Google Scholar 

  • Ianchulev T, Kolin T, Moseley K et al (2003) Optic nerve atrophy in propionic acidemia. Ophthalmology 110:1850–1854

    Article  PubMed  Google Scholar 

  • Lam C, Desviat LR, Perez-Cerdá C et al (2011) 45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure: late complications of propionic acidemia? Mol Genet Metab 103:338–340

    Article  CAS  PubMed  Google Scholar 

  • Lee TM, Addonizio LJ, Barshop BA et al (2009) Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis 32:97–101

    Article  Google Scholar 

  • Lücke T, Pérez-Cerdá C, Baumgartner M et al (2004) Propionic acidemia: unusual course with late onset and fatal outcome. Metabolism 53:809–810

    Article  PubMed  Google Scholar 

  • Miyazaki T, Ohura T, Kobayashi M et al (2001) Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene. J Biol Chem 21:35995–35999

    Article  Google Scholar 

  • Molteni KH, Oberley TD, Wolff JA et al (1991) Progressive renal insufficiency in methylmalonic acidemia. Pediatr Nephrol 5:323–326

    Article  CAS  PubMed  Google Scholar 

  • Pouria S, Barratt J (2008) Secondary IgA nephropathy. Semin Nephrol 28:27–37

    Article  PubMed  Google Scholar 

  • Rutledge SL, Geraghty M, Mroczek E et al (1993) Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol 7:81–82

    Article  CAS  PubMed  Google Scholar 

  • Surtees RA, Matthews EE, Leonard JV (1992) Neurologic outcome of propionic acidemia. Pediatr Neurol 8:333–337

    Article  CAS  PubMed  Google Scholar 

  • Sutton VR, Chapman KA, Gropman AL et al (2012) Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab 105:26–33

    Article  CAS  PubMed  Google Scholar 

  • Tumlin JA, Madaio MP, Hennigar R (2007) Idiopathic IgA nephropathy: pathogenesis, histopathology, and therapeutic options. Clin J Am Soc Nephrol 2:1054–1061

    Article  PubMed  Google Scholar 

  • Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P et al (1999) An overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat 14:275–282

    Article  CAS  PubMed  Google Scholar 

  • Walter JH, Michalski A, Wilson WM et al (1989) Chronic renal failure in methylmalonic acidemia. Eur J Pediatr 148:344–348

    Article  CAS  PubMed  Google Scholar 

  • Williams SR, Hurley PE, Altiparmak UE et al (2009) Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 147:929–933

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 North Broadway, BRB 529, Baltimore, MD, 21205, USA

    H. J. Vernon

  2. Department of Pathology, Johns Hopkins University, Baltimore, MD, USA

    S. Bagnasco

  3. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 600 North Wolfe Street, Blalock Building Room 1012D, Baltimore, MD, 21287, USA

    A. Hamosh

  4. Division of Nephrology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA

    C. J. Sperati

Authors
  1. H. J. Vernon
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. Bagnasco
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Hamosh
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C. J. Sperati
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to H. J. Vernon .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. College of Pharmacy, Washington State University Clinical Pharmacology, Pullman, Washington, USA

    K Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Department of Pediatrics IGMD, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

    Eva Morava

  5. Center for Child and Adolescent Medicine Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: John H Walter, MD FRCPCH

Synopsis

Synopsis

This is the second reported case of kidney disease in an individual with propionic acidemia, and the first report with pathologic information, indicating that chronic kidney disease may be a late-stage complication of propionic acidemia.

Rights and permissions

Reprints and permissions

Copyright information

© 2013 SSIEM and Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Vernon, H.J., Bagnasco, S., Hamosh, A., Sperati, C.J. (2013). Chronic Kidney Disease in an Adult with Propionic Acidemia. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 12. JIMD Reports, vol 12. Springer, Cham. https://doi.org/10.1007/8904_2013_237

Download citation

  • DOI: https://doi.org/10.1007/8904_2013_237

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-03460-7

  • Online ISBN: 978-3-319-03461-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation