The Incidence and Clinical Presentations of Galactosemia in Fars province, South West of Iran
AbstractBackground: In this survey we studied the incidence and clinical presentations of galactosemia in Fars province, in south west of Iran. Galactosemia is a rare genetic metabolic disorder ofgalactose. Its metabolism can be performed through 3 pathways. Although enzymes deficiencyof each of them can lead to galactose accumulation in plasma, the term galactosemia is specifically used for UDP-galactose uridyl transferase (GALT) deficiency. Classical galactosemia (G/G) is mostly manifested by poor growth, irritability, lethargy, vomiting, poor feeding, and jaundice.Material and method: 337000 newborns were screened for galactosemia by measuring total galactose level. Blood samples were collected from the heel on the Gauthriepaper, and thencalorimetric test with enzyme was performed to determine total galactose level. Blood galactoselevel below 4mg/dl was considered as normal and it was repeated if it was more than 4mg/dl in the first stage. The test was considered as abnormal if it was more than 5mg/dl, then blood samples were collected on filter paper and dried for 3-4 hours at room temperature and shipped frozen to laboratory for detection of GALT activity and galactose and galactose-1-phosphate.Results: From those who were gone for screening, 105 newborns had total galactose level more than 5mg/dl, among them, 37 patients had galactose level more than 15 mg/dl. Overall 12 cases were considered as classic galactosemia with an incidence rate of 1/28000, in Fars province.Conclusion: Although all of our patients were symptomatic and were admitted byhyperbilirubinemia before receiving the results, neonatal screening had an important role in the early diagnosis and management of this disease.
Wang BB, Xu YK, Ng WG, Wong LJ. Molecular and biochemical basis of galactosemia. Mol Genet Metab. 1998;63(4):263-9.
Cuthbert C, Klapper H, Elsas L. Diagnosis of Inherited Disorders of Galactose Metabolism. Curr Protoc Hum Genet. 2008 ;Chapter 17:Unit 17.5.
Segal S, Berry GT, editors. Disorders of galactose metabolism. 7th ed. New York: McGraw-Hill; 1995.
Fridovich-Keil J, Walter JH. editors. Galactosemia. 8th ed. New York: McGraw-Hill Medical Publishing Division; 2008.
Suzuki M, West C, Beutler E. Large –Scale molecular screening for galactosemia alleles in pan-ethnic population. Hum Genet. 2001;109(2):210-5.
Fujimoto A, Okano Y, MIAGI T, Isshiki G, Oura T. Quantitative Beulter Test for Newborn Mass Screening of Galactosemia Using a FluorometricMicroplateReader. Clin Chem. 2000;46(6 Pt 1):806-10.
Cederbaum S, Berry GT. Inborn Errors of Carbohydrate Metabolism In Christine. 9th ed. Gleason A, Devaskar SU, editors. Philadephia: Elsevier Saunder; 2012.
Saudubray JM, Nassogne MC, Lonlay P, Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol. 2002;7(1):3-15.
Health NIo. Galactosemia. [cited 2008 1 September]; Available from: http://ghr.nlm.nih.gov/condition=galactosemia.
Shield JP, Wadsworth EJ, MacDonald A, Stephenson A, Tyfield L, Holton JB, et al. The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child. 2000;83(3):248-50
Novelli G, Reichardt JK. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab. 2000;71(1-2):62-5.
Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet. 1995;346(8982):1073-4.
Jensen UG, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B, Simonsen H. Neonatal Screening for Galactosemia by Quantitative Analysis of Hexose Monophosphates Using Tandem Mass Spectrometry: A Retrospective Study. Clinl Chem. 2001;47(8):1364-72.
Hongl SP, Yoon HR, Kim MK. Development of a New HPLC Diagnostic Method for Galactosemia Using 8-Amino-2- naphthalenesulfonic acid. Chromatographia. 2001;54:83-6.
Health UDo. Galactosemia:A Newsletter of the newborn screening program and the newborn screening laboratory; 2004.
Senemar S, Ganjekarimi AH, Senemar S, Tarami B, Bazrgar M. The Prevalence and Clinical Study of Galactosemia Disease in a Pilot Screening Program of Neonates, Southern Iran. Iranian J Publ Health. 2011;40(4):99-104.
Saadat M, Ansari- Lari M, Farhud DD. Consanguineous marriage in Iran. Ann Hum Biol. 2004;31(2):263-9.
Pagon RA, Bird TD, Dolan CR, Adam MP, Stephens Kea. Galactosemia. Seattle: University of Washington; 2000.
Henderson H, Leisegang F, Brown R, Eley B. The clinical and molecular spectrum of galactosemia in patient from the cape town region of south Africa. BMC Pediatr. 2002;2:7.
Botkin JR. Research for Newborn Screening : Developing a National Framwork. Pediatrics. 2005;116(4):862-71.
Bosch AM. Classic galactosemia revisited. J Inherit Metab Dis. 2006;29(4):516-25.
Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, et al. Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis. 2013;36(1):21-7.
Shriberg LD, Potter NL, A. SE. Prevalence and Phenotyp of Childhood Apraxia of Speech In Youth with Galactosemia. J Speech Lang Hear Res. 2011;54(2):487-519.
Robertson A, Singh RH, Guerrero NV, Hundley M, Elsas LJ. Outcomes analysis of verbal dyspraxia in classialactosemia. Genet Med. 2000;2(2):142-8.
Panis B, Gerver WM, Rubio-Gozalbo ME. Growth in classical galactosemia patients. Eur J Pediatr. 2007;166(5):443-6.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution 4.0 International License that allows others to share the work with an acknowledgment of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgment of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).