Pancreatitis and organic acidemias

852

Editorial correspondence

The Journal of Pediatrics May 1995

Pancreatitis and organic acidemias To the Editor: Kahler et at. (J PEDIATR 1994; 124:239-43) report a collaborative investigation on "Pancreatitis in Patients with Organic Acidemia," and conclude that pancreatitis may be a compIication of branchedchain organic acidemias. Pancreatitis was also previously reported by Wilson et al. 1 in a patient with 3-methylglutaryl-coenzyme A lyase deficiency, which cleaves 3-hydroxy-3-methylglutaric acid to acetoacetate and acetyl-coenzyme A. We saw a 10-month-old infant with 3-methylglutaconic (3MGC) aciduria; he was the third child born to nonconsanguineous Italian parents. The parents had previously had a son with microcephaly, mental retardation, and seizures. Cerebellar vermis hypoplasia was observed with computed tomographic scanning; recurrent episodes of hematemesis and melena were the causes of his death at the age of 2 years. Our patient was referred for the evaluation of psychomotor delay. Laboratory investigations revealed increased transaminase values. Plasma amino acids, lactate, free and acylcarnitines were all normal. Urine organic acid analysis revealed the consistent elimination of 3-MGC acid and 3-methylglutaric acid. Mithochondrial respiratory chain enzymes (complex IV, II, and III) were normal. Computed tomographic scanning of the brain revealed severe cerebellar vermis hypoplasia. During admission, the child suddenly had diarrhea and vomiting followed by severe hematemesis and melena. Acute pancreatitis was found by laparoscopy. During the following days, renal insufficiency developed; a few days after the operation, the child died with signs of intravascular disseminated

coagulation. Evidence is growing that many conditions with brain involvement may be associated with 3-MGC aciduria, and further studies are still in progress to determine whether in our patient this was a primary or a secondary phenomenon (mitochondrial disorder, anomalies of polyisoprenoid metabolism?). At any rate, to our knowledge this case represents the first observation of pancreatitis in a patient with 3-MGC aciduria. The mechanism of damage to the pancreas in patients with organic acidurias is unknown. It is may be supposed that, as in patients with Reye syndrome, metabolic disarrangement may cause damage to the pancreatic tissue, activating pancreatic enzymes in an inappropriate location.

A. Fiumara R. Barone F. Nigro A. Ribes L. Pavone Department of Pediatrics, University of Catania Catania, Italy Institut of Biochemistry Barcelona, Spain 9/3S/62712

REFERENCE

1. Wilson WG, Cass MB, Sovik O, Gibson KM, Sweetman L. A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lysase deficiency. Eur J Pediatr 1984;142:289-91.

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