Assessment of anthropometric indices in patients with phenylketonuria

Background: Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are studies which have demonstrated growth retardation in these patients, and some are in contrast. This study is done to assess the growth parameters of treated PKU patients. Method : 105 treated PKU patients were compared to 105 controls matched in age, sex and birth weight. Weight, height, head circumference, weight for height and BMI (weight/height2) were measured and transformed into Z-scores. Correlations between pretreatment plasma Phenylalanine concentrations mean plasma Phenylalanine concentrations, and anthropometric parameters were analyzed in patients. Findings: There was no significant difference between weight Z-scores, weight/height and BMI means, in patients and controls (P: 0.842, p: 0.257, p: 0.622 respectively). There was a significant decrease in height Z-scores of patients more than 2 years old (P: 0.005). Also, there was a significant decrease in patient's Head circumference than controls'(P: 0.03), however this significance got more in patients above 3 years old (P: 0.001). There was not a significant correlation between weight and height Z-scores, and patients' pretreatment plasma phenylalanine (P: 0.054 and 0.15), however this correlation was positively significant in HC Z-scores (r= -0.445, P: 0.01).Moreover,no correlation was found between growth parameters and mean plasma phenylalanine concentrations. Conclusions: Growth parameters are not impaired in early treated PKU patients; however height in patients more than 2 years old and Head circumference in patients more than 3 years old were retarded. Disease severity is a more effective factor in HC growth than dietary adherence

Gaucher Disease: New Expanded Classification Emphasizing Neurological Features

 Gaucher disease (GD) is a rare inherited metabolic disorder and themost common lysosomal storage disorder, caused by a deficiency inglucocerebrosidase enzyme activity. It has been classified accordingto the neurological manifestations into three types: type 1, withoutneuropathic findings, type 2 with acute infantile neuropathic signsand type 3 or chronic neuropathic form. However, report of newvariants has led to the expansion of phenotype as a clinical phenotypeof GD considered as a continuum of phenotypes. Therefore, it seemsthat a new classification is needed to cover new forms of the disease. Keywords: Gaucher disease; Neurological manifestations; Phenotypes

The Effect of Cinnamon Supplementation on Hemoglobin A1c in Patients with Type 1 Diabetes Mellitus

Introduction: Type 1 diabetes mellitus (T1DM), one of the most common endocrine disorders in children, is an autoimmune disease that manifests itself as an increase in blood sugar as a result of impaired insulin production due to the destruction of the islets of Langerhans in the pancreas. To treat this disease, along with the use of insulin and numerous drug protocols, the use of herbal medicinal supplements has always been considered. However, due to the lack of studies related to these supplements, there is not enough evidence for their therapeutic use. Method: We investigated the therapeutic effectiveness of a cinnamon medicinal supplement with a dose of 50 mg every 8 hours per day, on glucose hemostasis in patients with T1DM . Thirty patients with T1DM were enrolled. They are subjected to sampling and examination of blood sugar indicators, including fasting blood sugar and hemoglobin A1c, as well as indicators of insulin consumption (total daily dose of insulin) and insulin resistance, including the ratio of insulin to carbohydrates on days 0, 90 and 180 of the start of treatment with cinnamon. Results:  The level of hemoglobin A1c in this group had a significant decrease. Also, there was no significant increase in the amount of insulin consumption in the drug supplement-consuming groups in contrast to the control group during six months. Conclusion: The use of cinnamon supplements along with treatment protocols has a significant effect in reducing hemoglobin A1c during six months of treatment in these patients. These results can be useful in promoting the use of therapeutic supplements in the treatment of patients with diabetes

Non-progressive Non-immune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene

Mucopolysaccharidosis type VII or Sly syndrome is a rare autosomal recessive disorder caused by deficiency of β Glucuronidase enzyme, which is involved in degradation of glycosaminoglycans. The lack of β Glucuronidase in this lysosomal storage disorder is characterized by various manifestation such as non-immune hydrops fetalis, spinal deformity, organomegaly, multiplex dysostosis, intellectual disability, and eye involvement. It has been found to be caused by a mutation in GUSB gene on chromosome 7 q11. Here we reported an Iranian girl with Mucopolysaccharidosis type VII and a novel mutation (C. 542G>T, P.Arg181Leu) in GUSB gene

The Effect of the Ketogenic Diet on the Growth and Biochemical Parameters of the Children with Resistant Epilepsy

ObjectiveThe aim of this study was to evaluate the effect of the ketogenic diet on the growth parameters of the children with resistant epilepsy.Materials & MethodsA total of 36 children with resistant epilepsy who were 2 to 7 year old were put on the ketogenic diet. Their growth and biochemical parameters were studied at the beginning of the study and after 3 months.ResultsWeight decreased in all patients. Serum levels of hemoglobin, calcium, and blood sugar decreased significantly but remained in the normal range. Creatinine did not change, but BUN showed a significant increase.ConclusionWe can lower the complications of ketogenic diets by using more unsaturated fat, more water, and more minerals.

Family Social Status and Dietary Adherence of Patients with Phenylketonuria

Objective: There are several problems associated to the management of patients with phenylketonuria (PKU). Social status could be one of the affecting factors on dietary adherence in these patients. The aim of this study was to evaluate family social status and dietary adherence of PKU patients in Iranian population. Methods: In a cross-sectional study, we studied 105 Iranian PKU patients (born 1984 to 2010), treated and followed at Mofid Children's Hospital, Tehran. Social status was defined by number of children in family, number of affected children in family, maternal and paternal education, marital and employment status of the parents. Age at diagnosis and duration of treatment were also recorded. Mean plasma phenylalanine level was considered as a sign of dietary adherence in PKU patients and was calculated considering the phenylalanine measurements throughout at least one year. Findings: Mean plasma phenylalanine concentration was 5.9±3.6 mg/dl in patients 12 years old. Blood phenylalanine concentrations in 47.6% of patients were in normal age-related reference range. There was a significant association between divorced and unemployed parents, and higher levels of blood phenylalanine concentration (P=0.02 and P=0.03 respectively). There was a significant positive correlation between number of affected children in the family (r=0.43, P<0.001), age at diagnosis (r=0.2, P=0.03), treatment duration (r=0.7, P=<0.001) and blood phenylalanine concentrations. There was no significant relation between parental education, family size and dietary adherence. Conclusion: Social status affects dietary adherence to some extent. We suggest exploring caregivers dietary knowledge as the next step to improve dietary compliance in these patients

Analysis of glucocerebrosidase gene mutations in Iranian patients with Gaucher disease: Identification of 6 novel mutations

Abstract Objective Gaucher disease (GD) is the most common autosomal recessive disorder of glycolipid storage. It results from mutations in the glucocerebrosidase (GBA) gene and leads to GBA deficiency. Different mutations are associated with different phenotypes in the three major types of GD. Materials &amp; Methods The spectrum of mutations in GBA gene in 26 unrelated patients with GD from different Iranian populations was determined by DNA sequencing, polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP), and amplification-refractory mutation system (ARMS) methods. An in silico analysis was also performedfor novel mutations Results Six new mutations were identified in this study. The newly detected mutations that could be theoretically harmful included p.I200T (c.599T&gt;C), p.H312D (c.934C&gt;G), p.L325S (c.974T&gt;C), p.L393V (c.1177C&gt;G), p.S439G (c.1315A&gt;G), and p.M455R (c.1365G&gt;A). Also, p.L483P, p.N409S, p.W420X, p.E379K, p.R398Q, p.N227S,p.R202Q, and p.D448H mutations were identified in the patients. Besides, two new complex mutations, namely, p.S439G/p.S439G+p. E379K/- and p.R202Q/p.R202Q+p.N227S/p.N227S, were detected. The most common GBA mutation in the population was p.L483P with an allele frequency of 32.7%, followed by p.N409S (19.2%). ConclusionThe present study detected six new mutations of GBA gene among GD patients. Two mutations (p.L483P andp.N409S) were especially common among Iranians; this finding can be used in implementing screening programs and understanding the molecular basis of GD

Four years of diagnostic challenges with tetrahydrobiopterin deficiencies in Iranian patients

Hyperphenylalaninemia (HPA) is a condition caused by tetrahydrobiopterin (BH4) and phenylalanine hydroxylase (PAH) deficiencies. It is essential that differential diagnosis be conducted to distinguish these two causes of HPA, because BH4 deficiency is a more severe disease involving progressive neurologic deterioration. Based on the biological findings, HPA is defined as a plasma phenylalanine level of >2.0 mg/dl (>120 μmol/l). The National Biochemistry Reference Laboratory at the Pasteur Institute of Iran initiated BH4 deficiency screening tests for the first time during the implementation of a nationwide phenylketonuria (PKU) screening program. Measurement of blood phenylalanine and urinary neopterin and biopterin was conducted by high-performance liquid chromatography in 617 patients with HPA. Dihydropteridine reductase (DHPR) activity was measured in all patients by kinetic spectrophotometry. Differential diagnosis was conducted for PKU, transient HPA, and BH4 deficiencies.Our results indicated that out of 76 cases involving BH4 deficiencies, 37 had 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, 35 had DHPR deficiency, 1 case had pterin-4a-carbinolamine dehydratase (PCD) deficiency, and 3 cases had GTP cyclohydrolase I (GTPCH) deficiency. In this study, 1 novel deletion mutation and 18 novel missense mutations were reported in addition to mutations that had previously been identified and registered in BIOMDB. At present, the screening program for PKU in Iran includes tests that detect different forms of BH4 deficiency presenting with HPA. Newborns that are BH4-deficient benefit from the availability of the tests because they can receive necessary care before being clinically affected