Article
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
European journal of medical genetics - 1 Aug 2020
Rios-Flores Izabel Maryalexandra, Bonal-Pérez Miguel Ángel, Castellanos-González Abril, Velez-Gómez Ezequiel, Bertoli-Avella Aida M, Bobadilla-Morales Lucina, Peña-Padilla Christian, Appendini-Andrade Valentina, Corona-Rivera Alfredo, Romero-Valenzuela Ivón, Corona-Rivera Jorge Román
Abstract excerpt
Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis. Microscopically, intrahepatic cytoplasmic inclusions and fibrosis are seen. We report a...
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