By Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
JIMD reviews publishes case and brief examine studies within the quarter of inherited metabolic issues. Case reviews spotlight a few strange or formerly unrecorded characteristic correct to the illness, or function a major reminder of medical or biochemical good points of a Mendelian disorder.
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Extra resources for JIMD Reports, Volume 30
22730 Tetreault M, Fahiminiya S, Antonicka H et al (2015) Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet 134:981–991. 1007/s00439-0151577-y Yamada K, Aiba K, Kitaura Y et al (2015) Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased Nacetyl-S-(2-carboxypropyl)cysteine excretion. J Med Genet 52:691–698. 1007/8904_2016_539 RESEARCH REPORT Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions Marcus J.
Whole mitochondrial sequencing and sequencing of 101 nuclear genes associated with mitochondrial disease were negative. Clinical whole-exome sequencing identified two variants in ECHS1: p. 8C>A; predicted possibly JIMD Reports damaging by PolyPhen-2 (Adzhubei et al. 2010) and predicted damaging by SIFT (Kumar et al. 2009)) and p. 389T>A; predicted probably damaging by PolyPhen-2 and predicted damaging by SIFT), which were in trans. org, accessed November 2015). No mutations in other genes were reported by whole-exome sequencing.
2015; Haack et al. 2015; Tetreault et al. 2015; Yamada et al. 2015). Previously affected patients have had predominant features of lactic acidosis, epilepsy, and death at a young age. The age of onset has varied; however, most cases have presented in early infancy. The median age of reported cases at either 34 death or at time of report is 36 months (mean 69 months). Only two previously reported patients (who were siblings) died in the neonatal period (Ferdinandusse et al. 2015). Here we report two children from a single family affected by severe ECHS1D with evidence of prenatal onset, preterm delivery, severe and rapid onset of metabolic acidosis, and death within the first 2 days of life.