J Korean Med Sci.  2019 Dec;34(47):e303. 10.3346/jkms.2019.34.e303.

Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child

Affiliations
  • 1Department of Emergency Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
  • 2Department of Pediatrics, Yeungnam University College of Medicine, Yeungnam University Hospital, Daegu, Korea.
  • 3Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
  • 4Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu, Korea. bhchoe@knu.ac.kr

Abstract

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities"”such as hyperammonemia, metabolic acidosis, and ketosis"”associated with complaints of vomiting, feeding difficulties, and hypotonia during the neonatal period. However, in rare late-onset cases, mild or vague symptoms make the diagnosis more challenging. Even though acute pancreatitis is relatively uncommon in children, it can occur in association with PA. We present the case of a 4-year-old child who was admitted owing to the complaint of recurrent pancreatitis and had not previously been diagnosed with having metabolic disease. During inpatient treatment for acute pancreatitis, convulsions occurred with concomitant hyperammonemia, metabolic acidosis, coagulopathy, and shock 1 week after the administration of total parenteral nutrition. He was diagnosed to have PA after a metabolic work-up and confirmed to have novel mutation by molecular genetic analysis. Because children with PA may have acute pancreatitis, although rare, vomiting and abdominal pain should raise a suspicion of acute pancreatitis. On the contrary, even among children who have never been diagnosed with a metabolic disease, if a child has recurrent pancreatitis, metabolic pancreatitis caused by organic acidemia should be considered.

Keyword

Propionic Acidemia; Pancreatitis; Child

MeSH Terms

Abdominal Pain
Acidosis
Child*
Child, Preschool
Diagnosis
Diethylpropion*
Humans
Hyperammonemia
Inpatients
Metabolic Diseases
Methylmalonyl-CoA Decarboxylase
Molecular Biology
Muscle Hypotonia
Pancreatitis*
Parenteral Nutrition, Total
Propionic Acidemia*
Seizures
Shock
Vomiting
Diethylpropion
Methylmalonyl-CoA Decarboxylase
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