Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.

ABSTRACT:

Background

Multiple acyl-CoA dehydrogenase (MADD) deficiency represents a rare fatty acid oxidation disorder where sporadic reports of pancreatitis already exist. Here, we report three cases of MADD with pancreatic involvement raising questions whether this represents an incidental finding or it is related to the pathophysiology of MADD.

Methods

We have retrospectively studied the clinical, biochemical and radiologic data of patients with MADD diagnosed in our department over the last 20 years to identify patients with pancreatic involvement.

Results

Three out of 17 patients had pancreatic involvement. All three patients were diagnosed with MADD in the neonatal period (two-third symptomatic-riboflavin nonresponsive, one-third asymptomatic via newborn screening-ribofla

SUBMITTER: Elkhateeb N 

PROVIDER: S-EPMC7802625 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature