R Colantuono et al. JPGN 2021; 73: 444-454. Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review
- There are over 130 different types of CDG with 41 that have liver involvement; 7 with a hepatopathy and 34 with in the context of multisystem disease.
- Transferrin isoform analysis (Isoelectric focusing or high-performance liquid chromotography) detects about 50% of the CDGs; hence, genetic panel or exome sequencing is needed for diagnosis in many cases.
M Warren et al. JPGN 2021; 73: 463-470. Mycophenolate Mofetil Hepatotoxicity Associated With Mitochondrial Abnormality in Liver Transplant Recipients and Mice
- 4 cases of MMF hepatoxicity are presented along with EM changes which revealed unequivocal mitochondrial abnormalities similar to those seen in primary and secondary mitochondrial disorders
- MMF hepatotoxicity was confirmed in mouse study showing that MMF caused various stress changes in the mitochondria
- Conclusion: Although MMF is safe for the majority of patients, MMF can cause mitochondrial stress, which may trigger more severe mitochondrial abnormalities in a small subset which can be evident with EM.
E Couchonnal et al JGPN; 73: e80-e86. Pediatric Wilson’s Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France
This study examined the clinical data from 182 pediatric patients. WD was diagnosed at a mean age of 10.7 years. Overall survival at 20 years of followup was 98% and patient and transplant-free survival was 84% at 20 years.