Article
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
American journal of medical genetics. Part A - 1 Sept 2013
Sarig Ofer, Goldsher Dorit, Nousbeck Janna, Fuchs-Telem Dana, Cohen-Katsenelson Ksenya, Iancu Theodore C, Manov Irena, Saada Ann, Sprecher Eli, Mandel Hanna
Abstract excerpt
3-Methylglutaconic aciduria (3-MGCA) type IV is defined as a heterogeneous group of inborn errors featuring in common 3-MGCA and associated with primary mitochondrial dysfunction leading to a spectrum of multisystem conditions. We studied four patients who presented at birth with a clinical pictu...
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