A Child with Acute Pancreatitis and Recurrent Hypoglycemia Due to 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1984 Sep 1

PMID 6489380

Citations 15

Authors

W G Wilson

M B CASS

O Sovik

K M Gibson

L Sweetman

Affiliations

Soon will be listed here.

Abstract

A five-year-old-girl with a history of recurrent hypoglycemia presented with acidosis, intractable vomiting, and abdominal tenderness; the diagnosis of acute pancreatitis was made by abdominal ultrasonography and supportive biochemical studies. Urinary organic acid analysis revealed metabolites suggestive of HMG-CoA lyase deficiency, and subsequent enzyme assays of lymphocytes and fibroblasts confirmed this diagnosis. Acute pancreatitis, an uncommon condition in childhood, is seen with increased frequency in patients with Reye syndrome, a metabolic disorder with which HMG-CoA lyase deficiency may be confused. The pathogenesis of pancreatitis in Reye syndrome or in HMG-CoA lyase deficiency has not been determined.

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