Isovaleric Acidemia Associated Pancreatitis: Key Concepts Every Clinician Should Know

Parkash A, Haleem A*, Sughandi S and Akram M

Professor of Pediatrics and Pediatric Gastroenterologist, Hepatologist and Nutrition Specialist at National Institute
of Child Health, Pakistan
Postgraduate Resident, Pediatric Medicine, Dow University of Health Sciences, Karachi, Pakistan
Department of Medicine, Dow University of Health Sciences, Karachi, Pakistan
Fellow Pediatric Gastroenterology, Hepatology and Nutrition Department, National Institute of Child Health,
Karachi, Pakistan

^*Correspondance to: Aisha Haleem  

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Abstract:

Background: Isovaleric Acidemia (IVA) is caused by Isovaleryl CoA dehydrogenase (IVD) deficiency, which results in impaired leucine metabolism and toxic effects of isovaleric acid metabolites in the body. The patient presents with acute episodes of vomiting, abdominal pain, sweaty feet odor, encephalopathy, increased anion gap acidosis, ketonuria, and hyperammonemia. Acute abdominal pain and vomiting may lead to the diagnosis of pancreatitis and delay the identification of the chronic form of IVA. Case Presentation: We report a case of a 6-year-old male child who presented with recurrent pancreatitis from 1 year of age. He was diagnosed with pancreatitis based on clinical symptoms, elevated pancreatic enzymes, and imaging findings. Despite normalization of pancreatic enzymes and radiological findings, he did not show clinical stabilization, which diverted our focus to investigate metabolic disorders. Investigations showed high anion gap acidosis, ketonuria, hyperammonemia, and elevated excretion of isovaleric acid and its metabolites in urine. Treatment was modified with a leucine-restricted diet and L-carnitine supplements. Two years of follow-up showed acute episodes of metabolic decompensation but normal pancreatic enzyme assays. Suspicion of chronic pancreatitis was raised as the patient complained of malabsorptive stools. Later, the diagnosis was confirmed with low fecal elastase levels and a fibrotic pancreas on imaging. Conclusion: Our case discloses the diagnostic dilemma of isovaleric acidemia and recurrent pancreatitis due to coinciding symptoms. It further emphasizes the need to screen isovaleric acidemia patients for chronic pancreatitis even with normal pancreatic enzyme levels.

Keywords:

Isovaleric Acidemia, Chronic Pancreatitis, Metabolic Disorder

Cite the Article:

Parkash A, Haleem A, Sughandi S, Akram M. Isovaleric Acidemia Associated Pancreatitis: Key Concepts Every Clinician Should Know. Clin Case Rep Int. 2026; 10: 1750..