Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature

Eur J Pediatr. 2011 Feb;170(2):241-5. doi: 10.1007/s00431-010-1313-5. Epub 2010 Oct 6.

Abstract

A severe rare complication in patients with branched-chain organic acidurias (BCOA) is pancreatitis with a limited number of patients published so far. Here, we report on a patient with methylmalonic aciduria (MMA) who developed chronic pancreatitis after several episodes of acute pancreatitis. In addition, an overview is given about some previous published cases with BCOA who developed pancreatitis in the course of the disease. In half of the published MMA patients with pancreatitis, an acute pancreatitis was reported while the rest suffered from a chronic form of this disease. Acute pancreatitis in BCOA patients can clinically present in the context of recurrent vomiting and an impaired general physical condition even without typical signs of pancreatitis. Any form of pancreatitis should be ruled out in the assessment of acutely ill patients with BCOA.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acute Disease
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acids, Branched-Chain / urine*
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pancreatitis / diagnosis
  • Pancreatitis / etiology
  • Pancreatitis, Chronic / diagnosis*
  • Pancreatitis, Chronic / etiology*
  • Prognosis
  • Severity of Illness Index
  • Time Factors

Substances

  • Amino Acids, Branched-Chain

Supplementary concepts

  • Methylmalonic acidemia