Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.

In maple syrup urine disease (MSUD), leucine (Leu) accumulation, and its metabolites cause brain toxicity, and at diagnosis rapid plasma Leu reduction is essential. Valine (Val) and isoleucine (Iso) supplements are necessary to promote anabolism and enable prompt reduction of plasma Leu. Val/Iso supplements are unavailable in Iran, so an alternative source was necessary. An emergency protocol was developed using an unconventional source of Val and Iso to prompt reduction of high plasma Leu levels during an acute metabolic crisis to prevent brain encephalopathy and neurological sequelae. Five children with classical MSUD were referred aged 1-25 months, with a prolonged high plasma Leu of more than 1500 µmol/L and acute symptoms (irritability, poor feeding, and hypotonia). Initially, breast milk/regular infant formula was stopped. Val and Iso were given in calculated amounts from a Leu-free formula containing Iso/Val (Xleu Maxamaid, Nutricia Ltd.) to promote anabolism. It was prescribed for a controlled and limited time with a branched chain amino acid (BCAA) free formula. Frequent amino acid monitoring was conducted. Natural protein was re-added after normalizing plasma Leu. Plasma Leu declined by a median (range) of 1677 (1501-1852) µmol/L within 3-4 days of intervention. The median follow-up time was 24 months (range: 14-32) and patients showed improvement in motor and cognitive skills after normalizing plasma Leu (75-200 µmol/L). Most had improvement in their head circumference (n = 4). Due to the unavailability of individual Val/Iso supplements, a Leu-free formula rapidly lowered plasma Leu concentrations during acute crisis, to prevent cerebral edema and brain damage in MSUD.

Dietary macro- and micro-nutrients intake adequacy at 6th and 12th month post-bariatric surgery.

BACKGROUND: Bariatric surgery (BS) is considered as an effective solution to control morbid obesity. Food restrictions resulting from the operation may decrease dietary nutrient intakes, particularly during the first year after BS. This study mainly aimed to assess the adequacy of dietary nutrient intakes at 6th and 12th month after BS. METHOD: Of the severely obese participants in the Tehran obesity treatment study in 2015-2016, 58 patients undergoing Roux-En-Y gastric bypass (N = 16) or sleeve gastrectomy (N = 42) were selected from Tehran Obesity Treatment Center. To assess the patients' dietary intake, a three-day, 24-h dietary recall was obtained on three unscheduled days (two non-consecutive weekdays and one weekend day) at 6th and 12th month after BS. To evaluate the adequacy of nutrient intake, the patients' intakes were compared to the current dietary reference intakes (DRIs), including estimated average requirements (EAR) or Adequate Intakes (AI). RESULTS: The mean age of the participants (71% women) undergoing BS was 37 ± 8 years. Anthropometric parameters significantly decreased at the 12th month after BS. The percentage of energy from carbohydrate intake increased significantly between the 6th and 12th month after BS (P = 0.04). The mean ± SD of protein intake was lower than the recommended dosage with a dramatic decrease from 45 ± 30 to 31 ± 15 (g/day) between the two intervals (P = 0.001). The mean intake of saturated fatty acid (SFA) decreased dramatically (P < 0.001) from 6 to 12 month; however, the median intake of n3-polyunsaturated fatty acid (n3-PUFA) intake increased (P = 0.02). None of the participants showed nutrient intake adequacy in terms of biotin, fat soluble vitamins, pantothenic acid, potassium, and zinc. Moreover, less than 10% of the participants showed nutrient intake adequacy in terms of folate, magnesium, manganese, and calcium according to DRIs during the both intervals after BS. CONCLUSION: Bariatric surgery can reduce dietary intakes, which is more obvious 12 months after the surgery. Out of 21 micronutrients, nearly all could not met the EAR and were received < 50%, also had significant reduction from the 6th to12th month after surgery.

The association of dietary patterns and adherence to WHO healthy diet with metabolic syndrome in children and adolescents: Tehran lipid and glucose study.

BACKGROUND: The optimal dietary pattern for reducing the extent of metabolic syndrome (MetS) has not been well established yet. The aim of this study was to evaluate dietary patterns and adherence to WHO healthy diet in children and adolescents and their associations with MetS. METHODS: Subjects of this cohort study were selected from among children and adolescents of the Tehran Lipid and Glucose Study participants, aged 6-18 years (n = 424). Dietary measurements were collected using a valid and reliable food frequency questionnaire. MetS was defined as the existence of at least 3 risk factors according to the Cook criteria. Diet was assessed based on dietary components of the WHO healthy diet. Dietary patterns were defined by principal component analysis. RESULTS: The mean ± SD age of participants (42% boys and 57% girls) was 13.5 ± 3.7 years. The most consistency with the WHO healthy diet was observed for cholesterol, free sugar and protein consumption in both genders, and the least was for n-3 poly-unsaturated fatty acid, trans-fatty acid and salt. Intake of SFA up to 12% of energy intake (third quartile) reduced the risk of MetS, compared to the first quartile. Subjects in the third quartile of n-6 poly-unsaturated fatty acid intake (6.2% of energy) showed the lowest odds ratio of MetS compared to the first quartile (OR: 0.18, CI: 0.04-0.66). In the adjusted model, the risk of MetS reduced across quartiles of MUFA intake by 60% (OR: 1, 0.40, 0.40, 0.42; P trend = 0.05). No significant trends were observed in the risk of MetS components across quartiles of the WHO healthy diet components. Three major dietary patterns were identified, the healthy, unhealthy and cereal/meat. An increased risk of MetS was observed in the highest quartile of unhealthy dietary pattern score compared to the lowest quartile (OR: 1, 0.81, 0.93, 2.49; P trend = 0.03). CONCLUSIONS: Our results demonstrated that the majority of our population did not meet some components of WHO healthy diet recommendations. The quality and quantity of fatty acid intakes were associated with risk of MetS. Adherence to unhealthy dietary pattern was associated with two-fold increase in MetS risk.

Incidence of obesity and its predictors in children and adolescents in 10 years of follow up: Tehran lipid and glucose study (TLGS).

BACKGROUND: Childhood obesity is one of the most challenging public health issues of twenty-first century. While we know that there is an increase in prevalence of childhood and adolescence obesity, incidence studies must be carried out. The main objective of this study was to determine childhood obesity incidence and its potential predictors in Tehranian urban population. METHODS: This study was conducted within the framework of the Tehran Lipid and Glucose Study (TLGS), addressing incidence and risk factors of obesity throughout several phases from 1999-2001 to 2009-2011 among Tehranian urban population. Total study subjects were 1033 non-obese children, aged between 7 to 11 years, with a median 8.7 years of follow-up. Body mass Index (BMI) was used to define obesity and overweight based on World Health Organization (WHO) criteria, and definition of metabolic syndrome (MetS) for children was based on the Cook survey. Cumulative incidence of obesity and obesity incidence rates were calculated for each gender. Cox proportional hazard models was used to estimate potential risk factors of obesity. RESULTS: Our Participants had a mean age of 9.2 ± 1.4 years, mean BMI of 16.1 ± 2.2 kg/m2 and mean waist circumference (WC) of 57.2 ± 6.7 at baseline. Total cumulative incidence of obesity was calculated to be 17%, CI =14.1-20.4 for whole population (19.6%, CI =15.4-24.8 for boys and 14.5%,CI = 10.9-19.1 for girls). Participants which were in the age group of 7-9 years at baseline experienced higher rate of cumulative obesity incidence compared to those who were in the age group of 10-11 years at baseline (22% vs 10.8%). In addressing risk factors, 5 parameters were significantly associated with obesity incidence: being overweight at baseline (HR = 14.93 95%CI: 9.82-22.70), having higher WC (HR = 5.05 95%CI: 3.01-8.48), suffering from childhood MetS (HR: 2.77 95%CI: 1.57-4.89) and having a obese father (HR: 2.69 95%CI: 1.61-4.50) or mother (HR: 3.04 95%CI: 1.96-4.72). CONCLUSION: Incidence of obesity is significantly high in Tehranian children, especially the age group 7-9 years. Best predictors of childhood obesity incidence are childhood overweight, WC above 90th percentile, childhood MetS and parental obesity.

Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.

Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the MPV17 and DGUOK genes and deficiencies of cystathionine ß-synthase, methionine adenosyltransferase types I and III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase, citrin, fumarylacetoacetate hydrolase, and adenosine kinase. Here we present a 3-year old girl with a history of poor feeding, irritability, respiratory infections, cholestasis, congenital heart disease, neurodevelopmental delay, hypotonia, sparse hair, facial dysmorphisms, liver dysfunction, severe hypermethioninemia and mild homocystinemia. Genetic analysis of the adenosine kinase (ADK) gene revealed a previously unreported variant (c.479-480 GA>TG) resulting in a stop codon (p.E160X) in ADK. A methionine-restricted diet normalized the liver function test results and improved her hypotonia.