Ethylmalonic encephalopathy associated with crescentic glomerulonephritis

Metab Brain Dis. 2012 Dec;27(4):613-6. doi: 10.1007/s11011-012-9313-y. Epub 2012 May 15.


Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy, relapsing petechiae and acrocyanosis. Nephrotic syndrome has been described in an infant with EE but the renal histology findings were not described in previous reports. We report a Palestinian girl with EE who presented with chronic diarrhea, encephalopathy, petechial rash and acrocyanosis. Subsequently, she developed progressive deterioration of renal function caused by rapidly progressive glomerulonephritis resulting in death within few days. This is, to our knowledge, the first reported occurrence of rapidly progressive glomerulonephritis in a child with ethylmalonic encephalopathy. Its presence is a serious complication associated with poor prognosis and may be explained by the diffuse vascular damage.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases, Metabolic, Inborn / complications*
  • Brain Diseases, Metabolic, Inborn / metabolism*
  • Brain Diseases, Metabolic, Inborn / pathology
  • Consanguinity
  • Exanthema / etiology
  • Fatal Outcome
  • Female
  • Glomerulonephritis / complications*
  • Glomerulonephritis / metabolism*
  • Glomerulonephritis / pathology
  • Humans
  • Infant
  • Kidney / pathology
  • Kidney Failure, Chronic / complications
  • Kidney Failure, Chronic / metabolism
  • Malonates / metabolism*
  • Mutation / genetics
  • Mutation / physiology
  • Nephrotic Syndrome / complications
  • Pedigree
  • Proteinuria / etiology
  • Proteinuria / metabolism
  • Purpura / complications*
  • Purpura / metabolism*
  • Purpura / pathology


  • Malonates
  • ethylmalonic acid

Supplementary concepts

  • Ethylmalonic encephalopathy