IEM

A fortnightly podcast where authors discuss findings from recent papers and share the stories behind their work

We detail our approach to intravenous management for metabolic patients and its underlying rationale. This generally entails a combination of intravenous glucose and lipid as well as early introduction of protein and essential vitamins.

SQOR dysfunction can result in hydrogen sulfide accumulation, which inhibits complex IV resulting in energy failure and represents a new cause of Leigh disease.

In a retrospective cross-sectional study, we reviewed 38 MRI studies from 24 molecularly proven NKH patients, and 2 transient NKH patients.

We describe the 9-site N-carbamylglutamate Consortium (NCGC) with the goal to conduct two randomized double-blind, placebo-controlled trials of NCG in acute hyperammonemia of PA, MMA, CPSD and OTCD.

We report that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence.

This manuscript suggests mutations in NDUFB10 are a novel cause of complex I deficiency associated with a late stage assembly defect and emphasize the role of intermembrane space proteins for the efficient assembly of complex I.

This study suggests that low BMD is common in both children and adults with HCU and that routine assessment of bone health in this patient population is warranted.

We report four patients with mutations in ECHS1 In addition to the clinical phentoype including aLeigh-like presentation, we report the underlying bioenergetics of the disorder.

This study provides evidence of abnormal mitochondrial RNA processing causing mitochondrial energy failure in HSD10 disease.