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Background: Organic acidurias are a heterogenous group of inherited metabolic disorders characterized by the accumulation and urinary excretion of organic acids. Delay in the detection and treatment of many of these disorders may lead to permanent brain damage or death. Accurate and early diagnosis is therefore paramount. The diagnosis of these disorders is achieved by the analysis of organic acids in the urine using gas chromatography/mass spectrometry (GC/MS). Since genetic and environmental factors and feeding habits can affect the concentration and profile of organic acids, for each population, data should be collected appropriate to that population. Such data did not exist for the Iranian population and thus, needed to be collected. Methods: 140 random urine samples were collected from healthy children in 4 age groups: term neonates (< 30 days), premature neonates, infants (1 month-2 years), and children (> 2 years). In addition, urine samples were collected from 10 children with classical symptoms of inherited metabolic disorders. After extraction and preparation of trimethylsilyl derivatives, organic acids were analyzed using GC/MS. Findings: 61 organic acids in 140 healthy urine samples were measured and the results were reported as the 2.5th-97.5th percentiles. These compounds were normal components of urine and some marker of diseases. In addition, among 10 samples collected from patients suspected of a metabolic disease, 2 patients with methyl malonic academia, 1 patient with propionic acidaemia and 1 patient with glutaric academia type 2 were identified. Conclusion: Urinary organic acid analysis is not currently performed in Iran and samples are sent abroad for investigation. In addition, no reference ranges for urinary organic acids in healthy Iranian children is available. This article, for the first time, reported the urinary organic acid analysis using GC/MS and reference ranges for the Iranian population. Urinary organic acids can now be analysed and results become available within the same day of patient admission in order to initialize early and targeted treatment. This study shows that metabolic disorders do exist in high proportion of patient with clinical signs and it appears that these diseases are prevalent. It also seems that methyl malonic acidemia is the most common disorder in patient with classic symptoms of organic acidemia in Iran.

Background: Many studies were conducted to evaluate the association between dietary glycemic index, glycemic load and children obesity. The aim of this study was to review these studies. Methods: We searched the ISI and PubMed databases for studies that evaluated the association between dietary glycemic index, glycemic load and obesity in children. At first, the studies containing the words "glycemic index", "glycemic load", "glycaemic index" or "glycaemic load" plus "child", "children", "young", "youth" or "adolescent" were selected. Among 1001 selected studies, articles were accepted if they had considered obesity or related factors as their main dependent variables. Findings: Twenty studies were included. Although the cross-sectional results were inconsistent, stronger studies had found a direct relation between dietary glycemic index, glycemic load and children obesity. Cohort studies had shown positive, neutral and negative associations between these dietary factors and obesity in children. However, although most clinical trials had reported a positive effect of dietary glycemic index on childhood obesity, they had not shown the similar effect for glycemic load. Conclusion: There is not enough evidence for making a certain conclusion. Therefore, further studies in this field are suggested.

Background: Metabolic syndrome is one of the risk factors of cardiovascular diseases. This study was designed to determine the prevalence of metabolic syndrome in survivor of childhood acute lymphoblastic leukemia. Methods: In a descriptive cross-sectional study fifty-five acute lymphoblastic leukemia cases younger than 21 years-old (the mean age: 10.4 years) were selected randomly from those who referred to Al-Zahra and Seyedolshohada hospitals in Isfahan from Aug to Feb 2007. The metabolic syndrome was defined based on criteria analogous to those of the modified adult treatment III (ATP III). We measured body mass index, blood pressure, fasting blood sugar, serum lipoproteins and insulin levels in subjects with metabolic syndrome. Findings: 20% (11/55) of participants had metabolic syndrome. 91% (10/11) of affected subjects were male (P = 0.025) and the prevalence of metabolic syndrome (MS) was more in males compare to the females (30% versus 4.5%, P = 0.019). 25% (14/55) of cases were obese while 71% (10/14) of them had metabolic syndrome (P 0.05). Conclusion: Survivors of childhood acute lymphoblastic leukemia are at risk for metabolic syndrome and its complications. The most prevalent risk factor in our study was obesity. Therefore close follow up in acute lymphoblastic leukemia treated patients is highly recommended. Key words: Acute Lymphoblastic Leukemia, Metabolic syndrome, Obesity, Insulin resistance.

Background: Congenital hypothyroidism (CH) is a relatively common congenital disorder in neonates. Recently, a considerable proportion of familial cases have been identified, and possible roles of autoimmune factors suggested. The aim of this study was to evaluate the abnormality of thyroid function tests in first degree relatives of CH neonates and compared it to normal population. Methods: From 2002-2007 thyroid function tests (T4 and TSH) of 194 randomly selected CH neonates borne in all 17 hospitals of the Isfahan, Iran and their first degree relatives were measured, and compared with thyroid function tests of first degree relatives of 350 normal neonates that randomly selected as sex, age and urban/rural status. Patients’ mothers and control groups were also evaluated for TPO antibody. Statistical analysis was performed by SPSS (version 11.5; SPSS Inc., Chicago, IL) and Chi Square test used to compare two groups. Findings: Thyroid function tests was measured in the first degree relative of neonates with CH (361parents, 136 siblings) and compared with control groups (665 parents, 477 siblings). Thyroid function tests were abnormal in 85 patients of case group vs. 96 patients of control group. Hypothyroidism was found on 75 and 57 person in case and control groups, respectively. In 17.3% of CH neonates mothers and 32.5% of control groups mothers TPO antibody were positive. 31.4% of CH infants had parental consanguinity that 22.6% of them had abnormal thyroid function test in their family. Conclusion: The study showed that abnormal thyroid function tests are significantly more frequent in the first degree relatives of CH infants than normal population (P < 0.005 for parents and P < 0.0001 for siblings). Furthermore the proportion of affected infants mothers with positive TPO-Ab was significantly lower than control groups (P = 0.005). Our study suggested that there is a possible familial and genetic component in inheritance of CH and maternal thyroid autoimmunity may not play an important role in development of CH in our area. Key words: Congenital hypothyroidism, Parents, Siblings, Thyroid function test, Thyroid peroxidase antibodies