The relative risk of developing coronary artery disease (CAD) in Pakistani men is highest in early ages. Majority of those suffering from CAD belong to the lower middle socioeconomic stratum of the society. Mild hyperhomocysteinemia (concentration of plasma homocysteine between 15-25 micromol/l) is very commonly seen in Pakistani patients with acute myocardial infarction (AMI) as well as in nor...

PURPOSE Focal neurodegeneration of the optic nerve in Leber hereditary optic neuropathy (LHON) is primarily due to a maternally inherited mitochondrial DNA mutation. However, the markedly reduced penetrance of LHON and segregation pattern of visual failure within families implicates an interacting nuclear genetic locus modulating the phenotype. Folate deficiency is known to cause bilateral opti...

BACKGROUND Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities. CASE PRESENTATION We herein describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait. Rapidly deteri...

Hyperhomocysteinemia (HHcy) has been shown to induce endothelial dysfunction in part as a result of enhanced oxidative stress. Function and survival of endothelial progenitor cells (EPCs, defined as sca1(+) c-kit(+) flk-1(+) bone marrow-derived cells), which significantly contribute to neovascularization and endothelial regeneration, depend on controlled production of reactive oxygen species (R...

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme key regulator in folate metabolism. Deficiencies in MTHFR result in increased levels of homocysteine, which leads to reduced levels of S-adenosylmethionine (SAM). In the brain, SAM donates methyl groups to catechol-O-methyltransferase (COMT), which is involved in neurotransmitter analysis. Using the MTHFR-deficient mouse model the purpose...

Severe hyperhomocysteinemia due to cystathionine b-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, '50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T3C mutation. These patients, who displayed no other known thrombophilic predis...

Severe hyperhomocysteinemia due to cystathionine b-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, '50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T3C mutation. These patients, who displayed no other known thrombophilic predis...