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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
In view of the frequency of the mutated allele on the Faroe Islands, measures become feasible to prevent the occurrence of the disease on the islands and the findings on this inborn error of metabolism in the TCA cycle are confirmed.
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and…
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
It was found that Knockdown of nansa in zebrafish embryos resulted in abnormal skeletal development, and exogenously added sialic acid partially rescued the skeletal phenotype, and NANS-mediated synthesis of siala is required for early brain development and skeletal growth.
New generation lipid emulsions prevent PNALD in chronic parenterally fed preterm pigs
It is shown that TPN-fed pigs given soybean oil developed cholestasis and steatosis that was prevented with both OV and SL emulsions, and the differences in cholESTasis and liver injury among lipid emulsion groups in vivo were weakly correlated with plasma and hepatic phytosterol content.
Exome Sequencing and the Management of Neurometabolic Disorders.
- M. Tarailo-Graovac, C. Shyr, C. V. van Karnebeek
- Medicine, BiologyThe New England journal of medicine
- 25 May 2016
Deep phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnormalities led to a diagnosis in 68%, the identification of 11 candidate genes newly implicated in neurometabolic disease, and a change in treatment beyond genetic counseling in 44%.
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
A single-platform, high-resolution liquid chromatography quadrupole time of flight (LC-QTOF) method that can be applied for holistic metabolic profiling in plasma of individual IEM-suspected patients and is convinced that NGMS is the way forward in laboratory diagnostics of IEMs.
Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon
In the absence of host influences, iron induces a more hostile environment characterized by a reduction of microbes that are generally beneficial, and increased levels of bacterial metabolites that can impair the barrier function of a cultured intestinal epithelial monolayer.
NMR spectroscopic studies on the late onset form of 3‐methylglutaconic aciduria type I and other defects in leucine metabolism
1H‐NMR spectroscopy of urine can easily discriminate between the known inborn errors of leucine metabolism and provide the correct diagnosis of 3‐methylglutaconic aciduria type I, and demonstrates that each disease has typical NMR characteristics.
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
- S. Wortmann, L. Kluijtmans, R. Wevers
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 25 January 2013
3-methylglutaconic aciduria is found quite frequently in patients suspected of a metabolic disorder, and mitochondrial dysfunction is indeed a common denominator, and it is only a discriminative feature of patients with mutations in AUH, TAZ, SERAC1, OPA3, DNAJC19 and TMEM70.