Hagebeuk EEO et al. S-adenosylmethionine and S-adenosyl homocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation. J Inherited Metab Dis (2013) 36:967-972 Rett syndrome, a devastating disorder characterised by neuroregression after an initial period of normalcy, is caused by mutations in the MECP2 gene encoding the methyl […]
Posts By: Alina Levtova
Vitamin D and cardiomyopathy in Fabry disease
Drechsler C et al. Potential role of Vitamin D deficiency on Fabry cardiomyopathy. J Inherit Metab Dis. 2013 Oct 19. [Epub ahead of print] Vitamin D has been implicated in cardiac metabolism, although its exact role is still unclear. As Fabry patients are at risk for vitamin D deficiency due to a combination of sunlight […]
Mutation in folate metabolism causes epigenetic instability and transgenerational effects on development.
In a complex but interesting study, Padmanabhan et al. created transgenic mice with impaired folate metabolism because of heterozygosity for a knock-down allele for Mtrr (encoding methionine synthase reductase, which is necessary in mammals for the activation of methionine synthase). They then interbred these mice with wild-type controls through several generations and evaluated their wild-type […]
Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy
Multiple-system atrophy (MSA) is an adult-onset neurodegenerative disease encompassing various combinations of parkinsonism, autonomic dysfunction, cerebellar ataxia and pyramidal dysfunction. As the neuropathologic diagnosis of MSA requires the finding of cytoplasmic aggregates of alpha-synuclein in oligodendroglia, it is classed among the alpha-synucleinopathies, alongside Parkinson disease and Lewy-body dementia. The disease is generally considered sporadic, though […]
ICIEM
The deadline for abstract submission for the 10th International Congress of Inborn Errors of Metabolism, September 2006 in Japan, has been extended to April 10th. Please visit: www.iciem2006.org Philippe Campeau, MD Resident in Medical Genetics at McGill University OMMBID Blog Administrator
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