Homocystine level in blood of patients with rheumatoid arthritis

Rheumatoid arthritis [RA] is an inflammatory disease. It largely affects synovial joints, which are lined with a specialized tissue called synovium. RA typically affects the small joints of the hands and the feet, and usually both sides equally and symmetrically, although any synovial joint can be affected. It is a systemic disease and so can affect the whole body, including the heart, lungs and eyes. There are approximately 400,000 people with RA in the UK, The incidence of the condition is low, with around 1.5 men and 3.6 women developing RA per 10,000 people per year. This translates into approximately 12,000 people developing RA per year in the UK. The overall occurrence of RA is two to four times greater in women than men. To assess total Homocystine [tHcy] metabolism and also levels of B vitamins [folate and B12] which is enters in remathelytion of Homocystine metabolism in blood of patient with rheumatoid arthritis. Forty patients with rheumatoid arthritis were studied. Their ages range from 20-80 years with a mean age of 47.2 +/- 12.9 years. Apparently healthy volunteers considered of 30 individuals who considered as control Blood samples were collected from patients and controls to assess serum concentration of homocystine were measured by [hplc], folate and B12 were measured by cobas e411, lipid profile [spectrophotometer] and different parameters. The current results revealed that serum Homocystine level was significantly higher in patients than in healthy controls [p=0.001]. More ever, there is significant negative association was found between serum Homocystine with folate and B12 also there is strong positive association between folate and B12. Elevated Hey levels in patients with RA, may explain some of the increased cardiovascular mortality seen in such patients. Studies of the prevalence and mechanism of hyperhomocysteinemia in RA are warranted simple preventive measures may reduce the risk cardio vascular disease such as dietary supplementation of adequate vitamins of folic acid and B12 from natural sources [fruits and green leafy vegetables], substitution of animal proteins by plant proteins in the diet, as animal proteins have higher methionine content than the plant proteins. This may, in part, decrease the body burden of Hey and regularize the deranged Hey metabolism in most cases

Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment / 中华儿科杂志

<p><b>OBJECTIVE</b>Combined methylmalonic acidemia with homocystinuria is a common form of methylmalonic acidemia in China. Patients with this disease can progress to death without timely and effective treatment. This study aimed to analyze the treatment outcomes of patients with combined methylmalonic acidemia and homocystinuria.</p><p><b>METHOD</b>From September 2004 to April 2012, 58 patients with combined methylmalonic acidemia and homocystinuria (34 males and 24 females) were diagnosed and treated in our hospital. Fifty cases were from clinical patients including 42 early-onset cases and 8 late-onset cases. Their age when they were diagnosed ranged from 18 days to 30.8 years. The other 8 cases were from newborn screening. All the patients were treated with vitamin B12, betaine, folic acid, vitamin B6, and L-carnitine. The physical and neuropsychological development, general laboratory tests, the levels of amino acids, acylcarnitines, and homocysteine in blood, and organic acids in urine were followed up.</p><p><b>RESULT</b>The follow-up period ranged from 1 month to 7.1 years. Three cases died (all were early-onset cases). In the other patients after treatment, the symptoms such as recurrent vomiting, seizures, lethargy, and poor feeding disappeared, muscle strength and muscle tension were improved, and general biochemical abnormalities such as anemia and metabolic acidosis were corrected. Among the surviving 55 cases, 49 had neurological impairments such as developmental delay and mental retardation. The median levels of blood propionylcarnitine and its ratio with acetylcarnitine, serum homocysteine, and urine methylmalonic acid were significantly decreased (P < 0.01), from 7.73 µmol/L (ranged from 1.5 to 18.61 µmol/L), 0.74 (ranged from 0.29 to 2.06), 97.3 µmol/L (ranged from 25.1 to 250 µmol/L) and 168.55 (ranged from 3.66 to 1032.82) before treatment to 2.74 µmol/L (ranged from 0.47 to 12.09 µmol/L), 0.16 (ranged from 0.03 to 0.62), 43.8 µmol/L (ranged from 17 to 97.8 µmol/L) and 6.81 (ranged from 0 to 95.43) after treatment, respectively.</p><p><b>CONCLUSION</b>Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin, betaine, folic acid, vitamin B6 and L-carnitine with clinical and biochemical improvement. But the long-term outcomes are unsatisfactory, with neurological sequelae in most patients.</p>

Role of homocysteine & MTHFR C677T gene polymorphism as risk factors for coronary artery disease in young Indians.

Background & objectives: Hyperhomocysteinaemia (HCA) either due to mutation of MTHFR gene or deficiency of vitamin B12 and folic acid, has been reported as a risk factor for coronary artery disease (CAD). The present study was aimed to determine plasma homocysteine (Hcy) levels and to evaluate MTHFR C677T gene polymorphism as risk factors for CAD, and to study the role of Hcy in conjunction with a few other risk factors of CAD in young Indians. The effect of vitamin B12 and folic acid supplements on the raised plasma Hcy levels in patients of CAD was also assessed. Methods: The present study included 199 consecutive angiography confirmed CAD patients, <45 yr of age, without any other known pro- coagulant state and 200 age- and sex-matched healthy controls. Fasting blood samples were collected in EDTA and plasma Hcy was estimated by ELISA test and the MTHFR C677T polymorphism detection was carried out by PCR-RFLP method. Results: Significant difference (P<0.001) was found between mean fasting levels of plasma Hcy in cases (22.14 ± 10.62 μmol/l) and controls (17.38 ± 8.46 μmol/l) with an Odds ratio as 1.93 (95% CI, 1.27-2.94). Levels of cholesterol, LDL, and triglycerides were significantly (P<0.001) higher in cases compared with controls. Interpretation & conclusions: Our study showed significant correlation between hyperhomocysteinaemia and coronary artery disease. Multivariate analysis by logistic regression of the various risk factors of CAD, found high levels of Hcy, cholesterol, LDL and low levels of HDL and smoking as independent predictors of CAD when all other factors were controlled. Significant post-treatment decrease found in HCA was easily modifiable by vitamin intervention irrespective to their CT or TT genotype of C677T MTHFR gene. Further studies to look at the plasma levels of folate and cobalamines and their association with Hcy are required to be done.

Serum asymmetric dimethyl arginine [ADMA], nitric oxide [NO] and homocystine [HCY] levels in behcet's disease as biomarkers of endothelial cell dysfunction

To measure the serum levels of asymmetric dimethyl arginine [ADMA], nitric oxide [NO] and homocystine [Hcy] in patients with Behcet's disease as markers of endothelial cell dysfunction and to explain their role [s] in the disease pathogenesis and activity. This study included 14 male patients with Behcet's's disease and 10 age and sex matched healthy volunteers. Patients were divided into two groups: mucocutaneous and vasculitis groups. CBC, deferential leucocytic counts, ESR, CRP were performed as a guide for disease activity. ADMA, NO and homocystine, was measured in the serum of all studied groups by ELISA. Duplex ultrasono graphics of venous and arterial system were done for vasculitis group. There was significant increase in ADMA level in BD patients [0.918 +/- 0.240 micro mol/L] than control group [0.0.401 +/- 0.070 micro mol/L] with increase in vasculitis group [1.133 +/- 0.223 micro mol/L] than mucocutaneous group [0.756 +/- 0.049 micro mol/L]. The study reported significant decrease in NO level in BD patients [11.986 +/- 1.815 micro mol] than the control group [14.560 +/- 1.897 micro mol/L] with significant decrease in vasculitis group [10.333 than +/- 0.647 micro mol/L] than mucocutaneous group [13.225 +/- 1.312 micro mol/L]. There was also significant increase in Hey level in BD patients [25.271 +/- 4.980 micro mol/L] than control group [10.020 +/- 1.060 micro mol/L] with significant increase in vasculitis group [30.53 3 +/- 1.141 micro mol/L] than mucocuteneous group [21.325 +/- 1.896 micro mol/L. Increased ADMA with decrease NO and increase Hcy serum levels may be responsible for endothelial damage in BD and can be used as markers for endothelial cell dysfunction

A Critical Evaluation of the Correlation Between Biomarkers of Folate and Vitamin B12 in Nutritional Homocysteinemia

Folate and vitamin B12 are essential cofactors for homocysteine (Hcy) metabolism. Homocysteinemia has been related with cardiovascular and neurodegenerative disease. We examined the effect of folate and/or vitamin B12 deficiency on biomarkers of one carbon metabolism in blood, liver and brain, and analyzed the correlation between vitamin biomarkers in mild and moderate homocysteinemia. In this study, Sprague-Dawley male rats (5 groups, n = 10) were fed folate-sufficient diet (FS), folate-deficient diet (FD) with 0 or 3 g homocystine (FSH and FDH), and folate-/vitamin B12-deficient diet with 3 g homocystine (FDHCD) for 8 weeks. The FDH diet induced mild homocysteinemia (plasma Hcy 17.41 +/- 1.94 nmol/mL) and the FDHCD diet induced moderate homocysteinemia (plasma Hcy 44.13 +/- 2.65 nmol/mL), respectively. Although liver and brain folate levels were significantly lower compared with those values of rats fed FS or FSH (p < 0.001, p < 0.01 respectively), there were no significant differences in folate levels in liver and brain among the rats fed FD, FDH and FDHCD diet. However, rats fed FDHCD showed higher plasma folate levels (126.5 +/- 9.6 nmol/L) compared with rats fed FD and FDH (21.1 +/- 1.4 nmol/L, 22.0 +/- 2.2 nmol/L)(p < 0.001), which is the feature of "ethyl-folate trap"by vitamin B12 deficiency. Plasma Hcy was correlated with hepatic folate (r = -0.641, p < 0.01) but not with plasma folate or brain folate in this experimental condition. However, as we eliminated FDHCD group during correlation test, plasma Hcy was correlated with plasma folate (r = -0.581, p < 0.01), hepatic folate (r = -0.684, p < 0.01) and brain folate (r = -0.321, p < 0.05). Hepatic S-adenosylmethionine (SAM) level was lower in rats fed FD, FDH and FDHCD than in rats fed FS and FSH (p < 0.001, p < 0.001 respectively) and hepatic S-adenosylhomocysteine (SAH) level was significantly higher in those groups. The SAH level in brain was also significantly increased in rats fed FDHCD (p < 0.05). However, brain SAM level was not affected by folate and/or vitamin B12 deficiency. This result suggests that dietary folate- and vitamin B12-deficiency may inhibit methylation in brain by increasing SAH rather than decreasing SAM level, which may be closely associated with impaired cognitive function in nutritional homocysteinemia.

Homocysteine, an indicator of methylation pathway alternation in Down syndrome and its regulation by folic acid therapy

Down syndrome [DS] is a complex genetic disease. Some clinical features of patients with this syndrome could be related to functional folate deficiency. The purpose of this study was to evaluate the total homocysteine [T-Hcy] metabolism in DS children and to determine whether the supplementation with folic acid therapy would shift the genetically induced metabolic imbalance or not. Thirty-five infants with DS, with the mean age of 17.66 +/- 12.24 months were included in this study. They were selected from those attending the Genetic Outpatients Clinic in Children hospital. Our results revealed that Down syndrome children had a significant decrease in serum plasma T-Hcy level after the treatment with folic acid [11.79: +/- 0.92 vs. 14.41 +/- 4.93 micro mol/L]. A significant negative correlation was found between T-Hcy and folic acid serum levels [r = -0.112; P<0.05]. We concluded that the regulation of methylation pathways in Down syndrome patients becomes important in the light of possible normalization of the metabolic imbalance and the detection of increased sensitivity to therapeutic interventions

Homocysteine level in CAD patients of Iranian population

Coronary flow reserve [CFR] is defined as a maximal [hyperemic] to resting ratio of coronary blood flow. It is a physiologic parameter of coronary circulation and depends on the patency of the epicardial coronary arteries and integrity of the microvascular circulation.CFR measurement has many clinical applications including functional assessment of intermediate stenosis, detection of critical stenosis monitoring of coronary flow in the post angioplasty period, assessment of post infarct blood flow and assessment of coronary graft patency. The aim of this study was to measure CFR in the coronary sinus through the transthoracic echocardiographic approach, in patients who were candidate for coronary artery bypass graft surgery [CABG] before and one month after operation. The present study included 19 patients [mean age=56 +/- 9.1] including 15 males and 4 females, admitted for CABG. All patients had a sinus rhythm, normal wall thickness, normal RV systolic pressure, and tricuspid valvular regurgitation equal or less than grade 2. The antegrade phase of coronary flow in the coronary sinus moving into the right atrium was analyzed in two phases [systolic and diastolic]. Each wave was determined considering the peak velocity and velocity time integral [VTI]. The volumetric blood flow in the coronary sinus calculated at the baseline and then in hyperemic phase was used for determination of CFR both before and after CABG. There was a significant increase in the diameter of the coronary sinus after CABG [9.4 +/- 1.2mm] compared with that of before CABG values [8.6 +/- 1.05mm]. Also there was a trend of increasing the diameter in the hyperemic phase before and after CABG. The absolute increase in mean coronary sinus diameter was 0.5 mm before and 1.5 mm after CABG. Coronary flow reserve [CFR] was significantly higher after surgery, despite a significant increase in systolic velocity ratio [hyperemic/baseline] after CABG. This is also true for systolic velocity time integral [VTI] and diastolic VTI ratios, but there was an insignificant increase in diastolic velocity ratio. Our study in accordance with previous studies, denotes that transthoracic measurement of the coronary flow reserve can be used as a feasible and reproducible method to monitor the changes in cardiac perfusion after revascularization

Serum level of homocysteine and the development of collateral circulation in patients with severe coronary artery stenosis / 中南大学学报(医学版)

OBJECTIVE@#To investigate the relationship between serum level of homocysteine and the development of collaterals in patients with severe coronary artery stenosis (SCAS).@*METHODS@#Eighty patients with at least one vessel stenosis over 90% among the 3 main vessels of coronary artery were consecutively enrolled into the study according to angiographic estimation. The development of collaterals was classified by Rentrop's method.@*RESULTS@#The serum levels of homocysteine among the single-vessel, bi-vessel and tri-vessel coronary artery disease groups had no significant difference; there was no linear correlation between the serum level of homocysteine and Gensini's score. The level of homocysteine in the poorly developed collaterals was significantly higher than that in the well-developed collaterals in the SCAS patients (P<0.001). Multiple stepwise logistic analysis revealed that homocysteine negatively correlated with the development of collaterals (P<0.001, odds ratio=0.353; 95% confidence interval=0.201 - 0.620), whereas it positively correlated with the number of stenosis vessels.@*CONCLUSION@#The serum level of homocysteine is independently and negatively associated with the development of collateral circulation in severe SCAs patients.

Effect of caspase 9 related signaling molecules on the apoptosis of human vascular endothelial cell induced by homocysteine / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To understand the role of mitochondria associated signaling pathway in the apoptosis of human vascular endothelial cell induced by homocysteine (Hcy).</p><p><b>METHODS</b>The mRNA and protein expression levels of the up-stream signaling molecules of caspase 3, Bcl 2, caspase 9, and cytosolic cytochrome-c, were investigated. The in vitro cultured human umbilical vein endothelial cells with homocysteine at different concentrations were incubated for 24 h. The expressions of Bcl 2 and caspase 9 at mRNA and protein levels were analyzed by reverse transcription-polymerase chain reaction(RT-PCR) and Western blot. Cytochrome-c in cytoplasm was also detected by Western blot.</p><p><b>RESULTS</b>The expression levels of three signaling molecules were all down-regulated by homocysteine at both mRNA and protein levels in a dose-dependent manner.</p><p><b>CONCLUSION</b>Homocysteine could affect the formation of apoptosome through repressing the expression of Bcl 2 gene and release of cytochrome-c from mitochondria. Decreasing of apoptosome could disturb the activation of caspase 9. The results also indicate that the mitochondria pathway is not the major signaling pathway involved in Hcy-induced apoptosis.</p>

Effects of Hyperhomocysteinemia on the Immunohistochemical Reactivity for Vimentin in the Retinal Glial Cell

It has been suggested that the elevated plasma homocysteine may lead to retinal dysfunction. We investigated the effects of plasma levels of homocysteine and folate on the retinal glial cells' injuries. Male Sprague-Dawley rats were raised either on a control diet or on an experimental diet containing 3.0 g/kg homocystine without folic acid for 10 weeks. Plasma homocysteine concentrations were measured by a HPLC-fluorescence detection method. Plasma folate and vitamin B12 levels were analyzed by a radioimmunoassay. The response of Muller cells which are the principal glial cells of the retina was immunohistochemically examined using an antibody for vimentin, a cytoskeletal protein belonging to the family of intermediate filament. At 2 weeks, the homocystine diet induced a twofold increase in plasma homocysteine, and a concomitant increase in the expression of vimentin in the Muller cells' processes spanning from the inner to outer membranes of the retina indicating arterial degeneration. At 10 weeks, the homocystine diet induced a fourfold increase in plasma homocystine, but vimentin immunoreactivity in the retinas was similar in both groups. In conclusion, increased plasma homocysteine levels have influence on morphological and functional changes of Muller cells in the retina.

Renal impairment in patients with methylmalonic aciduria: a review of five cases / 中华儿科杂志

<p><b>OBJECTIVE</b>The renal impairment in children with methylmalonic aciduria has seldom been reported. To improve knowledge in this aspect, clinical data of five cases with methylmalonic aciduria with renal involvement were analyzed and the results are reported in this paper, which may be of some help in early diagnosis, treatment and in achieving favorable prognosis.</p><p><b>METHODS</b>Urine methylmalonic acid was measured by gas chromatography-mass spectrometry analysis, if the content exceeded the normal range and vitamin B12 deficiency was excluded, the diagnosis of methylmalonic aciduria was confirmed. Homocysteine in plasma was also measured with fluorescence polarization immunoassay to make sure if concomitant homocysteinemia existed. From January 2002 to January 2005, five patients who had renal impairment were diagnosed as methylmalonic aciduria by urinary organic acid analysis. Among them, three were male, two were female, aged from seven months to 26 years, with average of 13 years. Three were presented to pediatric nephrology clinic with hematuria, proteinuria or edema, the other two were presented to pediatric neurology clinic first for psychomotor retardation. Their clinical features, laboratory findings, treatment regimens and prognosis were analyzed and summarized.</p><p><b>RESULTS</b>All the five patients with methylmalonic aciduria were found to have various degrees of renal impairment, manifested as hematuria or proteinuria. Among them, two cases had gross hematuria and three had microscopic hematuria. Edema was found in two cases and hypertension occurred in one case. Early indicators of renal damage, such as microalbunminuria, N-acetyl-beta-D glucosaminidase, transferrin and alpha-microglobulin showed glomerular and tubular dysfunction. Clinically nephrotic syndrome was diagnosed in one case, the other four cases were diagnosed as glomerulonephritis, and two cases had renal failure. Renal biopsy was performed in one case, tubulo-interstitial damage and mesangial proliferation appeared. Mental retardation and psychomotor disorder were chief nervous system complaints. Leukodystrophy was the main finding on imaging. Megaloblastic anemia was found in three cases. All the five patients were cobalamin-responsive type. Renal impairment was alleviated following treatment, edema and gross hematuria as well as hypertension disappeared later, proteinuria diminished, renal function improved, central nervous system symptoms and hematopoietic function ameliorated.</p><p><b>CONCLUSION</b>In patients with hematuria, proteinuria or renal failure of unknown origin, metabolic screening and urinary organic acid analysis should be performed as early as possible to confirm the diagnosis.</p>

Effects of Folic Acid Supplementation on Plasma Homocysteine and Thiobarbituric Acid Reactive Substances (TBARS) Levels and Liver SAM/SAH Ratio in Hyperhomocysteinaemia-induced Pregnant Rats

This study was performed to investigate effects of dietary folic acid supplementation on plasma homocysteine levels, thiobarbituric acid reactive substances (TBARS) levels and liver SAM/SAH ratio in hyperhomocysteinaemia-induced pregnant rats. Forty-two female Sprague-Dawley rats were divided three groups (C: control diet, HFD: 0.3% homocystine and 0 mg folic acid diet, HFS: 0.3 % homocystine and 8 mg/kg folic acid diet) according to homocystine and folic acid levels in the diet. They were fed experimental diets for 5 weeks prior to the mating and also during the entire period of pregnancy till gestational day 20. Dietary folic acid supplementation caused a significant decrease in plasma homocysteine levels which had been increased by a homocystine-diet, with a concomitant increase in plasma and liver folate levels. Liver TBARS levels in homocysteine-folic acid- deficient group (HFD) were higher than those in control group. Dietary folic acid supplementation increased hepatic SAM/SAH ratio in homocysteine-folic acid- supplemetantion group (HFS) when compared to the HFD (p < 0.05). These data suggest that folate depletion and elevated plasma homocysteine may promote oxidative stress in rat livers and influence the remethylation cycle of the homocysteine metabolism detrimentally. In conclusion, dietary folic acid supplementation was found to be effective for lowering plasma homocysteine levels, relieving oxidative stress, and improving the methylation status in the body.

Effects of Folate Supplementation on Cerebral Nuclear Factor-kappa B (NF-kappaB) and Endothelial Nitric Oxide Synthase Activities in Experimental Hyperhomocysteinemia / 대한해부학회지

Homocysteine is a significant but modifiable risk factor for vascular diseases, including stroke. While several pathological processes may be involved, homocysteine can cause significant endothelial impairment and compromise vascular nitric oxide (NO) bioactivity. Endothelial dysfunction can be characterized not only by impaired vasoreactivity with decreased availability of NO but also abnormal inflammatory cell-endothelial interactions and increased expression of cell adhesion molecules. Nuclear factor-kappa B (NF-kappaB) is a transcriptional factor which plays a coordinating role in inflammation and cellular proliferation and may be involved in early atherosclerosis. Experimentally, we investigated the effects of folate supplementation on endothelial nitric oxide synthase (eNOS) activity in the hyperhomocysteinemic rat brain and related the changes of eNOS activity to the expression of NF-kappaB. Animals were raised on an experimental diet containing 0.3% homocystine for 4 weeks or on a 0.3% homocystine diet for 2 weeks with or without folate supplementation (8 mg/kg diet). The cerebrovascular endothelial nitric oxide synthase (eNOS) activity was investigated by the immunohistochemical method. Cerebral contents of eNOS and NF-kappaB were also evaluated with the western blot analysis. At 4 wks, diet- induced hyperhomocysteinemia up to 4-fold (control: 6.5+/-0.4 micromol/L, homocystine: 26.2+/-2.5 micromol/L), and a reduction in the expression of cerebral eNOS with a concomitant increase in NF-kappaB. Dietary folate supplementation caused a significant decrease in plasma homocysteine levels with a concomitant increase in hyperhomocysyeinemia-induced reduction of the cerebral eNOS and decrease in hyperhomocysyeinemia-induced NF-kappaB expression.

Effects of Dietary Folate Supplementation on the Homocystine Diet-Induced Hyperhomocysteinemia and Hepatic S-Adenosylmethionine Metabolism in Rats

We investigated the effects of dietary folate supplementation on plasma homocysteine, vitamin B12 and hepatic levels of S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH) in diet-induced hyperhomocysteinemic rats. All animals were fed 0.3% homocysteine diet for 2 weeks, then they were placed either on a 0.3% homocystine or no homocystine with or without 8 mg/kg folate diet for 8 weeks. Homocystine diet induced hyperhomocysteinemia up to 3.5-fold at 10 weeks (28.0+/-4.8 micromol/l vs. 7.9+/-0.3 micromol/l). Dietary folate supplementation caused a significant decrease in plasma homocysteine levels which had been increased by a homocystine-diet. Also, dietary folate supplementation made them return to control levels at 4 wk when the diet was free of homocystine. Plasma folate levels were markedly decreased with homocystine diet with no folate supplementation. Plasma vitamin B12 did not differ between groups. Dietary homocystine increased hepatic levels of SAM in folate supplementation group at 10 weeks (p<0.05). Dietary folate supplementation increased hepatic levels of SAM/SAH ratios in homocystine group (p<0.05). In conclusion, dietary folate supplementation can effectively ameliorate the detrimental effects of hyperhomocysteinemia.mia.

Homocystinuria with congenital/developmental cataract.

The aim of the study is to screen patients for homocystinuria with and without cataract and analyse for homocystine and methionine. Fifty-eight samples from 29 patients, i.e., plasma and urine collected after overnight fasting were analysed by the screening test for homocystine, and paper chromatography for homocystine and methionine. Out of 29 homocystinuric patients, 24 had cataract. Only one had appreciable amounts of methionine in his serum. He also had mental retardation as expected and belongs to Type I. The other types did not have methionine but had only homocystine. There was no mental retardation or ectopia lentis. So they belonged to Types II, III or IV. As there is excess methionine in Type I, with low cystine, cataract may be due to deficiency of cysteine and reduced glutathione and might be averted by suitable therapy, i.e., high cystine-low methionine diet with B6. In other types with low methionine, cataract may be due to decreased availability of amino acids for the synthesis of lens proteins; the treatment of choice should be B12, and folate with methionine.

Homocyst(e)ine and atherosclerosis in patients on chronic hemodialysis

Hyperhomocyst(e)inemia is an established risk factor for atherosclerosis. We performed this study to identify the correlating variables and risk factors for atherosclerosis, as measured by the atherosclerotic score (AS), and to determine the relative risk for cardiovascular disease in relation to plasma homocyst(e)ine levels in patients on chronic hemodialysis. We evaluated and measured 61 patients on chronic hemodialysis for clinical and biochemical parameters including atherosclerotic score (AS) and plasma homocyst(e)ine. We divided patients into high and low groups, first, by the mean AS, and second, by the median value of plasma total homocyst(e)ine levels. Then we compared the variables between the two groups. Out of the 61 patients, the median plasma total homocyst(e)ine level was 24.4 micromol/L (mean+/-SD, 27.7+/-17.4; range, 9.8-127.4 micromol/L), and the median AS was 5 (mean+/-SD, 6.2+/-2.8; range, 3-13) out of a possible 20 points. AS was significantly correlated with plasma total homocyst(e)ine levels (r=0.37) and age (r=0.67). Through multivariate analysis, plasma total homocyst(e)ine level and age were determined as significant risk factors for the high-AS group (p0.05). Eighteen of the 61 patients, presented with cardiovascular disease until the present study, had an AS>6. Cardiovascular disease was found more often in the high-homocyst(e)ine group (>24.4 micromol/L) than in the low-homocyst(e)ine group (odds ratio, 9.3; 95% confidence interval, 2.3-37.4). Regardless of age, hyperhomocyst(e)inemia (especially homocyst(e)ine levels >24.4 micromol/L) is a risk factor that can be modified for the development of cardiovascular disease in patients on chronic hemodialysis.

A patient with homocystinuria complicated by superior sagittal sinus thrombosis: A case report

Homocystinuria is an inborn error of methionine metabolism and has several causes. Among the causes, cystathionine-b-synthase deficiency is the most common. The major clinical manifestations are ectopia lectis skeletal deformities, mental retardation and occlusive vascular disease A 16 year old girl was admitted with generalized seizure. She had a history of bilateral lens dislocation and thoracic scoliosis. Her brain MRI and MRA showed mass-like lesions at both frontal area and diffuses, stenosis of the right internal carotid artery She underwent a stereotaxic brain biopsy and cerebral angiography. Two days, after angiography, she was suddenly aggravated to show stuporous mentality and quadriplegia. FoIlow-up brain MRI showed newly developed acute ischemic lesions at both parietal area MR venography confirmed superior sagittal sinus thrombosis. Methionine and homocystine were markedly elevated in plasma and 24 hour urine. She recovered with anticoagulation and vitamin supplementation(folate and pyridoxine). Homocystinuria should be suspected in stroke patients of young age, especially if thy have nontraumatic lens dislocation or marfanoid features. We report a patient with homocystinuria complicated by cerebral venous sinus thrombosis which was aggrevated after cerebral angiography.

A patient with homocystinuria complicated by superior sagittal sinus thrombosis: A case report

Homocystinuria is an inborn error of methionine metabolism and has several causes. Among the causes, cystathionine-b-synthase deficiency is the most common. The major clinical manifestations are ectopia lectis skeletal deformities, mental retardation and occlusive vascular disease A 16 year old girl was admitted with generalized seizure. She had a history of bilateral lens dislocation and thoracic scoliosis. Her brain MRI and MRA showed mass-like lesions at both frontal area and diffuses, stenosis of the right internal carotid artery She underwent a stereotaxic brain biopsy and cerebral angiography. Two days, after angiography, she was suddenly aggravated to show stuporous mentality and quadriplegia. FoIlow-up brain MRI showed newly developed acute ischemic lesions at both parietal area MR venography confirmed superior sagittal sinus thrombosis. Methionine and homocystine were markedly elevated in plasma and 24 hour urine. She recovered with anticoagulation and vitamin supplementation(folate and pyridoxine). Homocystinuria should be suspected in stroke patients of young age, especially if thy have nontraumatic lens dislocation or marfanoid features. We report a patient with homocystinuria complicated by cerebral venous sinus thrombosis which was aggrevated after cerebral angiography.

A Case of Homocystinuria with Ectopia Lentis

Homocystinuria is an inborn error on the pathway of the methionine metabolism. It is mainly caused by a cystathionine B-synthase deficiency in the brain or liver. Homocystinuria is biochemically characterized by: 1) an increase of the homocystine and methionine concentration in the plasma; and 2) a decrease of the cystine with an increased excretion of homocystine in the urine. The clinical manifestations of this autosomal recessive disorder include: ectopoia lentis, skeletal abnormalities, high incidence of thromboembolism and high frequency of mental retardation. We have been experiencing a case of a 10 year old female patient who has suffered from homocystinuria. She has undergone mental retardation, poor vision caused by ocular complications and Marfanoid feautures.