منابع مشابه
Phenotypic spectrum of FARS2-deficiency
We read with interest the article by Vantroys et al. about two unrelated pediatric patients with FARS2-deficiency [1]. We have the following comments and concerns. Insomnia is a rare manifestation of a mitochondrial disorder(MID). Only in a study of 20 CPEO patients, 75% reported sleep dysfunction [2]. Did patient-2 take drugs that could explain sleeplessness? What were the results on polysomno...
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Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnos...
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BACKGROUND Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined ox...
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BACKGROUND Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Until recently, only somatic PIGA mutations had been reported in patients with paroxysmal nocturn...
متن کاملDopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in childhoo...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2018
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2017.11.003