A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.
10.5223/pghn.2017.20.1.61
- Author:
Elif SAG
1
;
Alper Han CEBI
;
Gulay KAYA
;
Gulay KARAGUZEL
;
Murat CAKIR
Author Information
1. Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey. muratcak@hotmail.com
- Publication Type:Case Report
- Keywords:
Acute;
Recurrent;
Pancreatitis;
Isovaleric acidemia;
Child
- MeSH:
Abdominal Pain;
Acid-Base Equilibrium;
Acidosis;
Child*;
Coma;
Diagnosis;
Diagnosis, Differential;
Humans;
Hyperammonemia;
Hypoglycemia;
Isovaleryl-CoA Dehydrogenase;
Ketosis;
Metabolic Diseases;
Metabolism;
Odors;
Pancreatitis*;
Shock;
Vomiting
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2017;20(1):61-64
- CountryRepublic of Korea
- Language:English
-
Abstract:
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, “the odor of sweaty feet,” abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.
