Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series.

ABSTRACT: Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder (IMD) that affects the electron transfer chain and fatty acid oxidation. The late-onset form of MADD has a heterogenous clinical presentation that typically results in episodic lethargy, hypoglycemia, acidosis, and rhabdomyolysis during metabolic decompensations. Purpose: In this case report series we describe three cases of late-onset MADD presenting with hyperammonemia and encephalopathy, a less frequent but severe complication. Methods: the medical records of three patients with MADD and hyperammonemia were retrospectively analyzed for details surrounding their presentation and workup. Results: One patient had hyperammonemia to 445 μmol/L, obtundation, and seizure

SUBMITTER: Viguera Altolaguirre C 

PROVIDER: S-EPMC11881097 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature