title: A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.
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.
authors.affiliation: Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Sag
authors.affiliation: Department of Genetics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors.forename: Alper Han
authors.initials: AH
authors.lastname: Cebi
authors.affiliation: Department of Pediatrics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors.forename: Gulay
authors.initials: G
authors.lastname: Kaya
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors.forename: Gulay
authors.initials: G
authors.lastname: Karaguzel
authors.affiliation: Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Cakir
keywords: Acute; Child; Isovaleric acidemia; Pancreatitis; Recurrent