A 34 day-old girl infant was admitted for poor feeding and cholestasis. She had a bulging fontanelle, with no evidence of intracranial infection or hemorrhage. Investigations demonstrated that she had GALACTOSEMIA. Computed tomographic scans demonstrated the presence of diffuse cerebral edema. After treatment the edema resolved.

Background: GALACTOSEMIA is a congenital metabolic disorder that can damage the health of a newborn. Screening is an important step to prevent and treat this condition. Due to increasing health care costs and limited financial re-sources of health systems, the most suitable economic analysis tool should be applied. The aim of this study was to analyze the cost-utility of neonatal screening program for diagnosing GALACTOSEMIA in Fars province, Iran. Methods: In this cross-sectional study and cost-utility analysis in the cost of screening for GALACTOSEMIA and its finan-cial effects, decision tree model and society’ s viewpoint were used. The population of study was 81837 infants referred to Neonatal Screening Laboratory (Nader Kazemi Clinic) affiliated to Shiraz University of Medical Sciences (SUMS), Iran, in 2010. Quality of life in two groups of patients was evaluated by using the time trade-off. The best intervention option was selected by using the Incremental Cost-effectiveness Ratio. Results: The estimated cost of diagnosed through screening and without screening were 43519911 and 130011168 Iranian Rails (4222. 00 $ and 12615. 00 $), respectively. Therefore, there was a saving of 201443240. 99 Iranian Rails (19641. 00 $), for each patient annually. Conclusion: The screening program can improve both the qualitative and quantitative lifestyle of people and increase savings in health care system. Policymakers could use the results to design new policies based on the necessity of screening.

Background: Classic GALACTOSEMIA (CG) is an inborn error of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme causes the conversion of uridine diphosphate-glucose (UDP)-glucose and galactose-1-phosphate (Gal-1-P) to glucose-1-phosphate and UDP-galactose. The absence of this enzyme results in the accumulation of the metabolites galactitol and Gal-1-P. The CG is heterogeneous at clinical and molecular levels. Objectives: This study provides some data for the investigation of the introduction of newmutations of the GALT gene that involved the cause of GALACTOSEMIA in the Iranian population. Methods: In this cross-sectional study, 31 newborns diagnosed with GALACTOSEMIA were investigated for the mutations of the GALT gene in Tehran province, Iran, from March 2014 to December 2019. The polymerase chain reaction sequencing method was used to analyze the GALT gene. Results: The sequence resultsshowed11 pathogenic mutationsonthe GALT gene, including five mutations in exon 10, two mutations in exon 9, two mutations in exon 5, one mutation in exon 6, and one mutation in exon 7. Moreover, six new mutations of the GALT gene were identified in the Iranian population, namely c. 442C>T (R148W), c. 881T>A (F294Y), c. 997C>T (R333W), c. 940A>G (N314D), c. 1030C>A (Q344K), and c. 1018G>A (E340K). Other mutations identified in this study were c. 563A>G (Q188R), c. 855G>T (K285N), c. 626A>C (Y209S), c. 404C>T (S135L), and c. 958G>A (A320T). The most common mutations in this study were p. Q188R (51. 6%), K285N (9. 67%), E340K (9. 67%), and R148W (6. 45%). Conclusions: This study identified 11 different pathogenic mutations of the GALT gene in the Iranian population with GALACTOSEMIA. The identification of the mutations involved in the development of CG in the Iranian population can play an important role in early diagnosis and intervention. The GALT gene mutations identified in this study can be used as screening markers to identify Iranian children with CG.