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Mutations in antiquitin in individuals with pyridoxine-dependent seizures
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a…
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
The first X-linked creatine-deficiency syndrome caused by a defective creatine transporter is reported, with a male patient with developmental delay and hypotonia and three female relatives who were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28.
IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria
It is detected that heterozygous germline mutations in IDH2 that alter enzyme residue Arg140 in 15 unrelated patients with d-2-hydroxyglutaric aciduria, a rare neurometabolic disorder characterized by supraphysiological levels of D- 2-HG, which provides additional impetus for investigating the role of the enzyme in the pathophysiology of metabolic disease and cancer.
Progress in understanding 2-hydroxyglutaric acidurias
- M. Kranendijk, E. Struys, G. Salomons, M. S. van der Knaap, C. Jakobs
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 6 March 2012
The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980.
Long-term outcome in 134 patients with galactosaemia
The cause of the unsatisfactory outcome of well-treated galactosaemic patients with disturbances in long-term development remains unclear and could be due to a chronic intoxication of galactose metabolites or a deficiency of UDP-galactose or Galactose-containing glycoproteins or glycolipids.
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Treatment with oral creatine monohydrate demonstrated no observable increase in brain creatine with proton MRS and no improvement in clinical symptoms, and a novel brain creatine deficiency syndrome most likely representing a creatine transporter defect is reported.
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Analysis of the prevalence of the various mutations among DPD patients has shown that the G→A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Hyperhomocysteinemia is associated with an increased risk of cardiovascular disease, especially in non-insulin-dependent diabetes mellitus: a population-based study.
- E. Hoogeveen, P. Kostense, C. Stehouwer
- Medicine, BiologyArteriosclerosis, thrombosis, and vascular…
High serum tHcy may be a stronger (1.6-fold) risk factor for cardiovascular disease in subjects with non-insulin-dependent diabetes mellitus than in nondiabetic subjects.
Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease.
Global DNA methylation may be altered in vascular disease, with a concomitant increase in plasma tHcy and AdoHcy.