Preinatal Types of Niemann-Pick disease type C

How to Cite This Article:Alaei MR. Preinatal Types of Niemann-Pick disease type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 12.Pls see Pdf.

Treatment of Organic Acidemia

Immidiate ManagementInfants and children with acute metabolic crisis require immediate treatment to prevent further acute deterioration and long-term sequelae.Early and appropriate treatment before confirmation of the diagnosis is life-saving.Eliminate intake of the precursors of possibly toxic metabolites.This applies most often to suspected inborn errors of amino acid or organic acid metabolism. In both cases, dietary or parenteral intake of protein and amino acids should be eliminated immediately an organic acidemia is suspected.Administer glucose a simple source of calories at least 8 mg / kg / min to suppress mobilization of endogenous sources of the metabolites.This is achieved by the intravenous administration of 10% dextrose supplemented by Intralipid.Specific TherapydiseaseNPO: Minimize intake and endogenous productionof toxic metabolites.Hadration: Administer high-calorie, high-carbohydrate intravenousfluids: 10% dextrose in 0.2% NaCl at 1.5 times calculated maintenance, and add KCl .Alkali Therapy: Bicarbonate is generally not indicated unless the plasma bicarbonate is <10 mmol/L; deficits should be only half corrected.Hemo or peritoneal dialysis: If just described measures fail to induce clinical & biochemical improvement ,hemo or peritoneal dialysis is indicated to Accelerate elimination of toxic metabolites. If hyperammonemia exists:1.5 × Maintenance D/W 10 % & intravenous lipids 1 g/kg 24 hSodium benzoate 250 mg/ kg to be added to 20 cc/kg of 10% glucose & infused within 1-2 h (priming dose) Continue infusion of sodium benzoate 250-500 mg / kg / 24 h following the above priming dose & should be added to daily intravenous fluidsInitiate peritoneal dialysis or hemodialysis :if above treatment fails to produce an appropriate decrease in plasma ammonia.Peritoneal dialysis is too slow. Exchange transfusion brings the plasma ammonium down quickly, but rebound hyperammonemia occurs just as quickly.It may be useful in some circumstances as an adjunct to hemodialysis.Cofactors TherapyAdministration of cofactors may be indicated in organic acidemia :Biotin 10 mg / dayCarnitine 100 / mg / kg / day in three divided doses IV or orallyCobalamin (vitamin B12) 1 mg SC or IMB6 100 mg IV or Activated B6 10 mg/kg IV, should be given to neonates with seizures unresponsive to conventional anticonvulsants; if there is no response to B6 and Activated B6 ,folinic acid , should be administered for possible folinic acid responsive seizures

Rabson-Mendenhall Syndrome: A Case Report

Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran

Dilated Cardiomyopathy Several Months after Hemolytic Uremic Syndrome

This is a report of a 44-month-old baby girl diagnosed as a case of atypical hemolytic uremic syndrome (aHUS) presenting with hematuria, periorbital edema, anemia, thrombocytopenia, and hypertension lacking any history of previous bloody diarrhea. She was treated with plasma infusion followed by plasmapheresis and peritoneal dialysis. After two months, she was discharged in remission undergoing periodic plasmapheresis. Four months later, she was visited for fatigue, tachypnea, and palpitation. Cardiac evaluation revealed dilated cardiomyopathy with an ejection fraction of 15-20%.  She was hospitalized and treated with inotropes and diuretics; one week later, she was discharged in a favorable condition. After six months follow-up, she showed an acceptable renal and cardiac state. It seems that cardiomyopathy can occur as a late and rare complication of HUS. We recommend cardiac evaluation for all patients with HUS at its presentation and in later follow-ups.  Keywords: Cardiomyopathy; Hemolytic Uremic Syndrome; Child

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.

EFL Learning, EFL Motivation Types, and National Identity: In Conflict or in Coalition

The present study was aimed at examining concerns about the social effects of EFL learning, a challenging area of research which has not been discussed sufficiently. It tried to investigate the relationship between EFL learning and national identity. In addition, attempt was made to find a relationship between language motivation types and national identity. Furthermore, the role of two demographic variables, gender and age was examined. To this end, a sample consisting of 350 undergraduates studying at Allameh Tabataba'i University in Tehran took part in the study. A questionnaire on national identity and another one on language motivation types followed by an interview were the instruments used. The questionnaires had already been developed. However, there were some major modifications for the former which consisted of 30 items measuring national identity for all participants. The latter contained 42 items measuring language motivation types for only EFL learners. The Regression analysis,  independent samples t-tests and a one-way ANOVA were run. The results revealed that claims over the harmful social effects of EFL learning were not arguably significant and it was found that among the eight language motivation types, going abroad and social responsibility were correlated with national identity. Furthermore, gender and age indicated significant differences among the participants' tendencies. The findings indicated that the social concerns about EFL learning are too pessimistic. So, materials developers, syllabus designers and teachers might consider the potentiality of some social elementsand demographic variables for the development of EFL learning

Quantification of Leghemoglobin Extracted from Roots of Five Different Alfalfa (Medicago sativa) Cultivars: An Experimental Study

Background: Leghemoglobin is an oxygen transporter and a hemoprotein found in nodule roots of nitrogen fixator plants from Leguminosae family. Leghemoglobin is produced in response to presence of bacteria belonging to Rhizobia family. Structurally, leghemoglobin is similar to hemoglobin and has a kind of heme iron structure.  Study of leghemoglobin as a heme iron containing agent can open up a new way for treatment and natural prevention of iron deficiency anemia and substitution with mineral iron salts. Methods: Five different cultivars of alfalfa plants including Esfahani, Bammi, Yazdy, Nik shahri, and Hamedani were cultivated in gardening farm of the faculty of agriculture in Shahid Chamran University in a linear form. Cultivation was done with biological fertilizer containing Sinorhizobium meliloti for test groups and without fertilizer for sham groups. After 60 days, the samples were harvested, and the amount of leghemoglobin produced in nodules was quantified using LaRue and Child fluorometric method. Results: The results from five cultivars of alfalfa planted with biological fertilizer showed a significant increase in viscosity of leghemoglobin in nodules of the test group in comparison with sham group (P<0.0001). Moreover, the high viscosity of leghemoglobin in nodules of Bammi cultivar indicated the capacity of this plant to produce leghemoglobin in Ahvaz. Conclusion: According to the findings of this study, Bammi cultivar of alfalfa is a good option for future studies and even production of high amounts of leghemoglobin in Khuzestan Province

Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers

How to Cite This Article: Mozafari H, Taghikhani M, Khatami Sh, Alaei MR, Vaisi-Raygani A, Rahimi Z. Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers. Iran J Child Neurol. Autumn 2016; 10(4):62-70.AbstractObjectiveChitotriosidase (CT) activity is a useful biomarker for diagnosis and monitoring of Gaucher disease (GD). Its application is limited by some variants in the CT gene. Two main polymorphisms are 24 bp duplication and G102S led to reduce CT activity. The aim of this study was to determine these variants influencing on plasma CT activity. Materials &amp; MethodsBlood samples were collected from 33 patients with GD, 15 sibling carriers and 105 healthy individuals serving as controls. CT activity was measured using 4-methylumbelliferyl-β-D-N,N′,N″triacetylchitotrioside substrate in plasma samples. The CT genotypes of 24 bp duplication and G102S variants were determined using PCR and PCR-RFLP. ResultsUntreated GD patients had a significantly higher CT activity compared to treated patients (P = 0.021). In addition, chitotriosidase activity in carriers was higher rather than controls. Allele frequencies of 24 bp duplication in GD patients, sibling carriers and controls were 0.21, 0.266 and 0.29 and for G102S were 0.318, 0.366 and 0.219, respectively. Different G102S genotypes had not significant effect on CT activity. Chitotriosidase activity has a positive correlation with age in normal group, carriers, and negative correlation with hemoglobin in GD patients. Using cut-off level of 80.75 nmol/ml/h, sensitivity and specificity of CT activity were 93.9% and 100%, respectively. ConclusionChitotriosidase activity is a suitable biomarker for diagnosis and monitoring of GD. Determination of 24 bp duplication is helpful for more accurate monitoring the GD patient’s therapy. However, it seems that, specifying of the G102S polymorphism is not required for Iranian GD patients. References1. Bennett LL, Mohan D. Gaucher disease and its treatment  options. Ann Pharmacother 2013;47(9):1182-93.2. Shrestha B, Devgan A, Sharma M. Gaucher’s disease: rare presentation of a rare disease. J Child Neurol 2013;28(10):1296-8.3. Kanneganti M, Kamba A, Mizoguchi E. Role of chitotriosidase (chitinase 1) under normal and disease conditions. J Epithel Biol Pharmacol 2012;5:1-9.4. Adly AA, Ismail EA, Ibraheem TM. Macrophagederived soluble CD163 level in young patients with Gaucher disease: relation to phenotypes, disease severity and complications. Int Immunopharmacol 2015;24(2):416-22.5. Irún P, Alfonso P, Aznarez S, Giraldo P, Pocovi M.Chitotriosidase variants in patients with Gaucher disease.  Implications for diagnosis and therapeutic monitoring. Clin Biochem 2013;46(18):1804-7.6. Grace ME, Balwani M, Nazarenko I, Prakash- Cheng A, Desnick RJ. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutationsimplications for diagnosis and therapeutic monitoring. Hum Mutat 2007;28(9):866-73.7. Woo KH, Lee BH, Heo SH, Kim JM, Kim GH, Kim YM, et al. Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease. J Hum Genet 2014;59(5):276-9.8. Wajner A, Michelin K, Burin MG, Pires RF, Pereira ML, Giugliani R, et al. Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. Clin Biochem 2007;40(5-6):365-9.9. Rosén C, Andersson CH, Andreasson U, Molinuevo JL, Bjerke M, Rami L, et al. Increased Levels of Chitotriosidase and YKL-40 in Cerebrospinal Fluid from Patients with Alzheimer’s Disease. Dement Geriatr Cogn Dis Extra 2014;31;4(2):297-304.10. Malaguarnera L. Chitotriosidase: the yin and yang. Cell Mol Life Sci 2006;63(24):3018-29.11. Pagliardini V, Pagliardini S, Corrado L, Lucenti A, Panigati L, Bersano E, et al. Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in myotrophic lateral sclerosis: A survey clinic-based study. J Neurol Sci 2015;15;348(1-2):245-50.12. Fusetti F, von Moeller H, Houston D, Rozeboom HJ, Dijkstra BW, Boot RG, et al. Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins. J Biol Chem 2002;277:25537–25544.13. Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Bali D, et al. Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics. Mol Genet Metab 2013;109(2): 218–220.14. Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994;93(3):1288–1292.15. Old JM, Higgs DR. Gene analysis. In: Weatherall DJ, editor. Methods in hematology. The thalassemias. Vol. 6. London: Churchill Livingstone; 1983. pp.74 – 101.16. Sinha S, Singh J, Jindal SK, Birbian N, Singla N. Association of 24 bp duplication of human CHIT1 gene with asthma in a heterozygous population of north India: a case-control study. Lung 2014;192(5):685-91.17. Manno N, Sherratt S, Boaretto F, Coico FM, Camus CE, Campos CJ, et al. High prevalence of chitotriosidase  deficiency in Peruvian Amerindians exposed to chitinbearing food and enteroparasites. Carbohydr Polym 2014;26;113:607-14.18. Adelino TE, Martins GG, Gomes AA, Torres AA, Silva DA, Xavier VD, et al. Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene. JIMD Rep 2013;9:85-91.19. van Dussen L, Hendriks EJ, Groener JE, Boot RG, Hollak CE, Aerts JM. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis 2014;37(6):991-1001.20. Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004;41:15–22.21. Czartoryska B, Tylki-Szymańska A, Górska D. Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT). Clin Biochem 1998;3(5):417-20.22. Arndt S1, Hobbs A, Sinclaire I, Lane AB. Chitotriosidase deficiency: a mutation update in an african population. JIMD Rep 2013;10:11-6.23. Lee P, Waalen J, Crain K, Smargon A, Beutler E. Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. Blood Cells Mol Dis 2007;39(3):353-60.24. Chien YH, Chen JH, Hwu WL. Plasma chitotriosidase activity and malaria. Clin Chim Acta 2005 ;353(1-2):215 25. Bussink AP, Verhoek M, Vreede J, Ghauharalivan der Vlugt K, Donker-Koopman WE, Sprenger RR, et al. Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. FEBS J 2009;276(19):5678-88.26. Aerts JM, Kallemeijn WW, Wegdam W, Joao Ferraz M, van Breemen MJ, Dekker N, et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis 2011;34(3):605-19.27. Giraldo P, Cenarro A, Alfonso P, Pérez-Calvo JI, Rubio- Félix D, Giralt M, et al. Chitotriosidase genotype and plasma activity in patients type 1 Gaucher’s disease and their relatives (carriers and non carriers). Haematologica 2001;86(9):977-84.28. Pocovi M, Cenarro A, Civeira F, Torralba MA, Perez- Calvo JI, Mozas P, et al. Beta-glucocerebrosidase gene locus as a link for Gaucher’s disease and familial hypoalpha- lipoproteinaemia. Lancet 1998;351(9120):1919-23.29. Fluiter K, van der Westhuijzen DR, van Berkel TJ. In vitro regulation of scavenger receptor BI and the selective uptake of high density lipoprotein choles-teryl esters in rat liver parenchymal and Kupffer cells. J Biol Chem 1998; 273:8434-8.30. Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier MT, et al. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis 2006;29:647–652.31. Kurt I, Abasli D, Cihan M, Serdar MA, Olgun A, Saruhan E, et al. Chitotriosidase Levels in Healthy Elderly Subjects. Ann N Y Acad Sci 2007;1100:185-8.32. Tamanaha P, D’Almeida V, Calegare BF, Tomita LY, Bittencourt LR, Tufik S. 24 bp duplication of CHIT1 gene and determinants of human chitotriosidase activity among participants of EPISONO, a population-based cross-sectional study, São Paulo, Brazil. Clin Biochem 2013;46(12):1084-8.33. Dodelson de Kremer R, Paschini de Capra A, Angaroni CJ, Giner de Ayala A. Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders. Medicina (B Aires). 1997;57(6):677-84.34. Goldim MP, Garcia Cda S, de Castilhos CD, Daitx VV, Mezzalira J, Breier AC, et al. Screening of high-risk Gaucher disease patients in Brazil using miniaturized dried blood spots and leukocyte techniques. Gene 2012;508(2):197-8.

Validation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics

How to Cite This Article:Abdi M, Khatami Sh, Hakhamaneshi MS, Alaei MR, Azadi NA, Zamanfar D, Taghikhani M.Validation of Urinary Glycosaminiglycans in Iranian Patients with Mucopolysaccharidose Type I: The Effect of Urine Sedimentation Characteristics. Iran J Child Neurol. 2014; 8(4):39-45. AbstractObjectiveThe first line-screening test for mucopolysaccharidosis is based on measurement of urinary glycosaminoglycans. The most reliable test for measurement of urine glycosaminoglycans is the 1,9-dimethyleneblue colorimetric assay. Biological markers are affected by ethnical factors, for this reason, the World Health Organization recommends that the diagnostic test characteristics should be used to determine results for different populations. This study determines the diagnostic value of 1,9-dimethyleneblue tests for diagnosis of mucopolysaccharidosis type I patients in Iran.Materials &amp; Methods In addition to routine urine analysis, the qualitative and quantitative measurements of urine glucosaminoglycans were performed with the Berry spot test and 1,9-dimethyleneblue assay. Diagnostic values of the tests were determined using the ROC curve.ResultsUrine total glycosaminoglycans were significantly higher in male subjects than in female subjects. Glycosaminoglycan concentration was markedly decreased in specimens with elevated white blood cell and epithelial cells count. Using a cut-off level of 10.37 mg/g creatinine, sensitivity, and specificity were 100% and 97.22%, respectively, for a 1,9-dimethyleneblue colorimetric assay.ConclusionUrine glycosaminoglycans concentration significantly differs in our studied population. In addition to determine diagnostic validity of the 1,9-dimethyleneblue test, our results demonstrate the usefulness of measuring glycosaminoglycans for early screening of mucopolysaccharidosis type I Iran. ReferencesJackson RL, Busch SJ, Cardin AD. Glycosaminoglycans: molecular properties, protein interactions, and role in physiological processes. Physiological reviews. 1991 Apr;71(2):481-539.Ghaderi S. The biochemistry base of mucopolysaccharidoses and approach to. Genetics in the 3rd millennium. [Educational]. 2006;4(1):711-22.Mizumoto S, Ikegawa S, Sugahara K. Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans. The Journal of biological chemistry. 2013 Apr 19;288(16):10953-61.Salbach J, Rachner TD, Rauner M, Hempel U, Anderegg U, Franz S, et al. Regenerative potential of glycosaminoglycans for skin and bone. Journal of molecular medicine (Berlin, Germany). 2012 Jun;90(6):625-35.Coppa GV, Catassi C, Gabrielli O, Giorgi PL, Dall’Amico R, Naia S, et al. Clinical application of a new simple method for the identification of mucopolysaccharidoses. Helvetica paediatrica acta. 1987 Jun;42(5-6):419-23.Fuller M, Meikle PJ, Hopwood JJ. Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. Glycobiology. 2004 May;14(5):443-50.Fuller M, Rozaklis T, Ramsay SL, Hopwood JJ, Meikle PJ. Disease-specific markers for the mucopolysaccharidoses. Pediatric research. 2004 Nov;56(5):733-8.Blau N, Duran M, Gibson K. Laboratory Guide to the Methods in Biochemical Genetics. First edition ed: Springer-Verlag Berlin Heidelberg; 2008. pp287-324.Dorfman A, Matalon R. The Hurler and Hunter syndromes. The American journal of medicine. 1969 Nov;47(5):691-707.Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (New York, NY. 1968 Nov 1;162(3853):570-2.Fratantoni JC, Hall CW, Neufeld EF. The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proceedings of the National Academy of Sciences of the United States of America. 1969 Sep;64(1):360-6.Fratantoni JC, Neufeld EF, Uhlendorf BW, Jacobson CB. Intrauterine diagnosis of the hurler and hunter syndromes. The New England journal of medicine. 1969 Mar 27;280(13):686-8.Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clinical chemistry. 2001 Dec;47(12):2098-102.Nor A, Zabedah MY, Norsiah MD, Ngu LH, Suhaila AR. Separation of sulfated urinary glycosaminoglycans by high-resolution electrophoresis for isotyping of mucopolysaccharidoses in Malaysia. The Malaysian journal of pathology. 2010 Jun;32(1):35-42.De Muro P, Faedda R, Formato M, Re F, Satta A, Cherchi GM, et al. Urinary glycosaminoglycans in patients with systemic lupus erythematosus. Clinical and experimental rheumatology. 2001 Mar-Apr;19(2):125-30.Berry HK, Spinanger J. A paper spot test useful in study of Hurler’s syndrome. The Journal of laboratory and clinical medicine. 1960 Jan;55:136-8.Pennock CA, White F, Murphy D, Charles RG, Kerr H. Excess glycosaminoglycan excretion in infancy and childhood. Acta paediatrica Scandinavica. 1973 Sep;62(5):481-91.Berman ER, Vered J, Bach G. A reliable spot test for mucopolysaccharidoses. Clinical chemistry. 1971 Sep;17(9):886-90.Pennock CA. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. Journal of clinical pathology. 1976 Feb;29(2):111-23.Chan RW, Szeto CC. Advances in the clinical laboratory assessment of urinary sediment. Clinica chimica acta; international journal of clinical chemistry. 2004 Feb;340(1-2):67-78.Fogazzi GB, Garigali G. The clinical art and science of urine microscopy. Curr Opin Nephrol Hypertens. 2003 Nov;12(6):625-32.Berry HK. Screening for mucopolysaccharide disorders with the Berry spot test. Clinical biochemistry. 1987 Oct;20(5):365-71.de Jong JG, Hasselman JJ, van Landeghem AA, Vader HL, Wevers RA. The spot test is not a reliable screening procedure for mucopolysaccharidoses. Clinical chemistry. 1991 Apr;37(4):572-5.Mabe P, Valiente A, Soto V, Cornejo V, Raimann E. Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests. Clinica chimica acta; international journal of clinical chemistry. 2004 Jul;345(1-2):135-40.Mahalingam K, Janani S, Priya S, Elango EM, Sundari RM. Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives. Indian J Pediatr. 2004 Jan;71(1):29-32.de Jong JG, Wevers RA, Laarakkers C, Poorthuis BJ. Dimethyl methylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clinical chemistry. 1989 Jul;35(7):1472-7.Panin G, Naia S, Dall’Amico R, Chiandetti L, Zachello F, Catassi C, et al. Simple spectrophotometric quantification of urinary excretion of glycosaminoglycan sulfates. Clinical chemistry. 1986 Nov;32(11):2073-6.Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Molecular genetics and metabolism. 1998 Dec;65(4):282-90.Carson NA, Neill DW. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Archives of disease in childhood. 1962 Oct;37:505-13.Huang KC, Sukegawa K, Orii T. Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses. 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Molecular genetics and metabolism. 2002 Jan;75(1):56-64

Clinical and Para clinical characteristics of non-classic Phenylketonuria

Abstract Objective Phenylketonuria (PKU) is one of the most common inherited metabolic diseases, classified as classic and non-classic forms.2% of children with PKU develop a severe and progressive neurologic disease called non classic (malignant) PKU. We aimed to demonstrate the clinical features and laboratory findings and the diagnostic and therapeutic properties of non-classic PKU patients referred to a tertiary level referral center of children in Tehran. Material and Method &nbsp;In this study, we evaluate background information such as gender and age, clinical manifestations, laboratory findings, and response rates to conventional treatment of patients with non-classic PKU who referred to Mofid Children's' Hospital through neonatal screening. &nbsp; Result Twenty patients with diagnosis of non-classic PKU were included. The mean age of them was 6.00 ± 2.81 years ranging from 2 to 12 years, and 45.0% were male. In patients with late diagnosis, the most common presentations were motor developmental delay (15.0%), skin and cutaneous manifestations (15.0%), seizure (5.0%), and restlessness (5.0%). An overall response to treatment was 85.0%. Factors that predict good response to treatment were female gender, higher neopterin level, and lower age at diagnosis and management. Conclusion In conclusion, about half of patients with non-classic PKU remain asymptomatic, which is due to early diagnosis via neonatal screening. Also, higher age at diagnosis and treatment, besides low neopterin levels, may be useful as prognostic factors. &nbsp