Related Experiment Video
Updated: Jan 2, 2026
Aip1p Dynamics Are Altered by the R256H Mutation in Actin
Published on: July 30, 2014
Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child
Jae Young Choe1, Kyung Mi Jang2, So Yoon Min3
1Department of Emergency Medicine, School of Medicine, Kyungpook National University, Daegu, Korea.
Insights
Propionic acidemia (PA), a rare metabolic disorder, can present with recurrent pancreatitis in children. Early recognition of pancreatitis symptoms in children is crucial for diagnosing underlying metabolic diseases like PA.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Propionic acidemia (PA) is a rare inherited metabolic disorder caused by deficient propionyl-CoA carboxylase activity.
- PA typically presents in neonates with metabolic derangements and acute symptoms, but late-onset forms can be challenging to diagnose.
- Acute pancreatitis is an uncommon but recognized complication in children with PA.
Observation:
- A 4-year-old child with recurrent pancreatitis, undiagnosed for metabolic disease, developed severe complications including hyperammonemia, metabolic acidosis, coagulopathy, and shock during treatment.
- The patient was diagnosed with PA after metabolic workup revealed characteristic abnormalities.
- Genetic analysis identified a novel mutation confirming the PA diagnosis.
Findings:
- This case highlights that recurrent pancreatitis in children can be a manifestation of undiagnosed propionic acidemia.
- The presentation of PA can be atypical, particularly in late-onset cases, mimicking other conditions.
- Metabolic abnormalities, including hyperammonemia and acidosis, can arise during treatment, especially with nutritional support like TPN.
Implications:
- Clinicians should consider PA in the differential diagnosis of recurrent pancreatitis in children, even without a prior metabolic disease diagnosis.
- Vomiting and abdominal pain in children may warrant investigation for acute pancreatitis, which could be linked to PA.
- Prompt diagnosis of PA is essential for appropriate management and prevention of severe metabolic crises and complications.
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.
Related Concept Videos
01:24Chronic Pancreatitis I: Introduction
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
01:20Inborn Errors of Metabolism
01:30Acute Pancreatitis II: Clinical Manifestations and Management
01:29Chronic Pancreatitis II: Collaborative Care
Assessment:
01:27Acute Pancreatitis I: Introduction
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include: