scholarly journals The Spectrum of Mutations of Homocystinuria in the MENA Region

Genes ◽  
2020 ◽  
Vol 11 (3) ◽  
pp. 330 ◽  
Author(s):  
Duaa W. Al-Sadeq ◽  
Gheyath K. Nasrallah
Keyword(s):  
Vascular System ◽  
European Ancestry ◽  
Restricted Diet ◽  
Mena Region ◽  
Gulf Region ◽  
Cystathionine Beta Synthase ◽  
Clinical Complications ◽  
Low Protein ◽  
Folic Acid Supplements ◽  
Protein Restricted Diet

Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine. Consequently, this build-up could lead to several complications such as nearsightedness, dislocated eye lenses, a variety of psychiatric and behavioral disorders, as well as vascular system complications. The prevalence of homocystinuria is around 1/200,000 births worldwide. However, its prevalence in the Gulf region, notably Qatar, is exceptionally high and reached 1:1800. To date, more than 191 pathogenic CBS mutations have been documented. The majority of these mutations were identified in Caucasians of European ancestry, whereas only a few mutations from African-Americans or Asians were reported. Approximately 87% of all CBS mutations are missense and do not target the CBS catalytic site, but rather result in unstable misfolded proteins lacking the normal biological function, designating them for degradation. The early detection of homocystinuria along with low protein and methionine-restricted diet is the best treatment approach for all types of homocystinuria patients. Yet, less than 50% of affected individuals show a significant reduction in plasma homocysteine levels after treatment. Patients who fail to lower the elevated homocysteine levels, through high protein-restricted diet or by B6 and folic acid supplements, are at higher risk for cardiovascular diseases, neurodegenerative diseases, neural tube defects, and other severe clinical complications. This review aims to examine the mutations spectrum of the CBS gene, the disease management, as well as the current and potential treatment approaches with a greater emphasis on studies reported in the Middle East and North Africa (MENA) region.

Programming of hepatic insulin-sensitive enzymes in offspring of rat dams fed a protein-restricted diet

1997 ◽  
Vol 272 (5) ◽  
pp. G1083-G1090 ◽  
Author(s):  
M. Desai ◽  
C. D. Byrne ◽  
J. Zhang ◽  
C. J. Petry ◽  
A. Lucas ◽  
...  
Keyword(s):  
Phosphoenolpyruvate Carboxykinase ◽  
Regulation Of Gene Expression ◽  
Protein Diet ◽  
Mrna Levels ◽  
Restricted Diet ◽  
Protein Biochemistry ◽  
Low Protein ◽  
Pregnancy And Lactation ◽  
Normal Laboratory ◽  
Protein Restricted Diet

Hepatic enzymes associated with glucose hemostasis were studied in offspring of dams fed either a 20% protein (control) or an isocaloric 8% protein (low-protein) diet during pregnancy and lactation. Additionally, offspring were exposed to maternal 8% protein diet only during gestation (recuperated) or lactation (postnatal low-protein). Glucokinase activity decreased (approximately 50%), whereas phosphoenolpyruvate carboxykinase (PEPCK) activity increased (approximately 100%), in the low-protein and recuperated offspring compared with controls (P < 0.001) at 21 days of age. However, the postnatal low-protein offspring had enzyme activities comparable with those of controls. These changes were still evident in 11-mo-old offspring weaned onto a normal laboratory chow. Parallel changes were apparent in mRNA levels of glucokinase and PEPCK in the low-protein male offspring. Thus the effect of programming metabolism extends not only to protein biochemistry but possibly also to the regulation of gene expression. Furthermore, these changes could not be attributed to glucagon or insulin, because ratios of these hormones were comparable between the control and low-protein groups.

Nutrients Mediate Bioavailability and Turnover of Proteins in Mammals

2019 ◽  
Vol 20 (7) ◽  
pp. 661-665
Author(s):  
Cunxi Nie ◽  
Fei Xie ◽  
Ning Ma ◽  
Yueyu Bai ◽  
Wenju Zhang ◽  
...  
Keyword(s):  
The Body ◽  
Biologically Active ◽  
Nitrogen Excretion ◽  
Dietary Proteins ◽  
Restricted Diet ◽  
Nutritional Interventions ◽  
Body Tissues ◽  
Utilization Of Protein ◽  
High Level ◽  
Protein Restricted Diet

As a major component of biologically active compounds in the body, proteins contribute to the synthesis of body tissues for the renewal and growth of the body. The high level of dietary protein and the imbalance of amino acid (AA) composition in mammals result in metabolic disorders, inefficient utilization of protein resources and increased nitrogen excretion. Fortunately, nutritional interventions can be an effective way of attenuating the nitrogen excretion and increasing protein utilization, which include, but are not limited to, formulating the AA balance and protein-restricted diet supplementing with essential AAs, and adding probiotics in the diet. This review highlights recent advances in the turnover of dietary proteins and mammal’s metabolism for health, in order to improve protein bioavailability through nutritional approach.

scholarly journals Energy Dense, Protein Restricted Diet Increases Adiposity and Perturbs Metabolism in Young, Genetically Lean Pigs

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e72320 ◽  
Author(s):  
Kimberly D. Fisher ◽  
Tracy L. Scheffler ◽  
Steven C. Kasten ◽  
Brad M. Reinholt ◽  
Gregory R. van Eyk ◽  
...  
Keyword(s):  
Restricted Diet ◽  
Protein Restricted Diet

scholarly journals Restriction of dietary protein leads to conditioned protein preference and elevated palatability of protein-containing food in rats

2017 ◽  
Author(s):  
Michelle Murphy ◽  
Kate Z. Peters ◽  
Bethany S. Denton ◽  
Kathryn A. Lee ◽  
Heramb Chadchankar ◽  
...  
Keyword(s):  
Dietary Protein ◽  
Food Choice ◽  
Cluster Size ◽  
Preference Test ◽  
Protein Restriction ◽  
Restricted Diet ◽  
Adult Rats ◽  
Low Protein ◽  
Casein Protein ◽  
Over Time

AbstractThe mechanisms by which intake of dietary protein is regulated are poorly understood despite their potential involvement in determining food choice and appetite. In particular, it is unclear whether protein deficiency results in a specific appetite for protein and whether influences on diet are immediate or develop over time. To determine the effects of protein restriction on consumption, preference, and palatability for protein we assessed patterns of intake for casein (protein) and maltodextrin (carbohydrate) solutions in adult rats. To induce a state of protein restriction, rats were maintained on a low protein diet (5% casein) and compared to control rats on non-restricted diet (20% casein). Under these dietary conditions, relative to control rats, protein-restricted rats exhibited hyperphagia without weight gain. After two weeks, on alternate conditioning days, rats were given access to either isocaloric casein or maltodextrin solutions that were saccharin-sweetened and distinctly flavoured whilst consumption and licking patterns were recorded. This allowed rats to learn about the post-ingestive nutritional consequences of the two different solutions. Subsequently, during a preference test when rats had access to both solutions, we found that protein-restricted rats exhibited a preference for casein over carbohydrate whereas non-restricted rats did not. Analysis of lick microstructure revealed that this preference was associated with an increase in cluster size and number, reflective of an increase in palatability. In conclusion, protein-restriction induced a conditioned preference for protein, relative to carbohydrate, and this was associated with increased palatability.

scholarly journals Dialysis or a Plant-Based Diet in Advanced CKD in Pregnancy? A Case Report and Critical Appraisal of the Literature

2019 ◽  
Vol 8 (1) ◽  
pp. 123 ◽  
Author(s):  
Rossella Attini ◽  
Benedetta Montersino ◽  
Filomena Leone ◽  
Fosca Minelli ◽  
Federica Fassio ◽  
...  
Keyword(s):  
Body Weight ◽  
Ideal Body Weight ◽  
Normal Weight ◽  
Favourable Effect ◽  
Dietary Management ◽  
Restricted Diet ◽  
Unilateral Renal Agenesis ◽  
Advanced Stages ◽  
Female Baby ◽  
Protein Restricted Diet

Pregnancy is increasingly reported in chronic kidney disease (CKD), reflecting higher awareness, improvements in materno-foetal care, and a more flexible attitude towards “allowing” pregnancy in the advanced stages of CKD. Success is not devoid of problems and an important grey area regards the indications for starting dialysis (by urea level, clinical picture, and residual glomerular filtration rate) and for dietary management. The present case may highlight the role of plant-based diets in dietary management in pregnant CKD women, aimed at retarding dialysis needs. The case. A 28-year-old woman, affected by glomerulocystic disease and unilateral renal agenesis, in stage-4 CKD, was referred at the 6th week of amenorrhea: she weighed 40 kg (BMI 16.3), was normotensive, had no sign of oedema, her serum creatinine was 2.73 mg/dL, blood urea nitrogen (BUN) 35 mg/dL, and proteinuria 200 mg/24 h. She had been on a moderately protein-restricted diet (about 0.8 g/kg/real body weight, 0.6 per ideal body weight) since childhood. Low-dose acetylsalicylate was added, and a first attempt to switch to a protein-restricted supplemented plant-based diet was made and soon stopped, as she did not tolerate ketoacid and aminoacid supplementation. At 22 weeks of pregnancy, creatinine was increased (3.17 mg/dL, BUN 42 mg/dL), dietary management was re-discussed and a plant-based non-supplemented diet was started. The diet was associated with a rapid decrease in serum urea and creatinine; this favourable effect was maintained up to the 33rd gestational week when a new rise in urea and creatinine was observed, together with signs of cholestasis. After induction, at 33 weeks + 6 days, she delivered a healthy female baby, adequate for gestational age (39th centile). Urea levels decreased after delivery, but increased again when the mother resumed her usual mixed-protein diet. At the child’s most recent follow-up visit (age 4 months), development was normal, with normal weight and height (50th–75th centile). In summary, the present case confirms that a moderate protein-restricted diet can be prescribed in pregnancies in advanced CKD without negatively influencing foetal growth, supporting the importance of choosing a plant-based protein source, and suggests focusing on the diet’s effects on microcirculation to explain these favourable results.

Sign in / Sign up

Export Citation Format

Share Document