Homocysteine, hypothyroidism, and effect of thyroid hormone replacement.

Elevation of total plasma concentration of homocysteine (t-Hcy) is an important and independent risk factor for cardiovascular disease. Hypothyroidism is possibly also associated with an increased risk for coronary artery disease, which may be related to atherogenic changes in lipid profile. Because hypothyroidism decreases hepatic levels of enzymes involved in the remethylation pathway of homocysteine, we prospectively evaluated fasting and postload t-Hcy in patients before and after recovery of euthyroidism.

D-2-hydroxyglutaric aciduria: further clinical delineation.

It has recently been recognized that D-2-hydroxyglutaric aciduria is a distinct neurometabolic disorder with a severe and a mild phenotype. Whereas the clinical and neuroimaging findings of the severe phenotype were homogeneous among the patients, the findings in the mild phenotype were much more variable, leaving the clinical picture poorly defined. We were able to collect the clinical, biochemical and neuroimaging data on an additional 8 patients with D-2-hydroxyglutaric aciduria, 4 with the severe and 4 with the mild phenotype.

[Molecular genetics of the remethylation of homocysteine].

In plasma of mothers with a child affected with a neural tube defect plasma homocysteine is often elevated, and attributed to a reduced folate-dependent homocysteine remethylation. There is strong evidence that folic acid prevents fasting moderate hyperhomocysteinemia. The pathophysiology of neural tube defect and interactions between genetic and nutritional factors that determine plasma homocysteine levels remain poorly understood.

[Cerebral vascular complication of hyperhomocysteinemia. Controlling thromboembolic complications with folates].

Background: Young patients who experience cardiovascular events may have raised levels of homocysteine. There may be several causes for this hyperhomocysteinemia.

Case Report: Cerebrovascular disease occurred in a 40-year-old female smoker with hyperhomocysteinemia.

Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver.

Mitochondrial cytopathies are multisystemic disorders of extremely variable expression due to a deficiency in oxidative phosphorylation. Cases have recently been reported in which fatal liver failure with neonatal onset was the major clinical and biochemical syndrome. In this series we reviewed the liver histology of 10 such patients who died in the first weeks of life (from 3 days to 6 mo).