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616-053.2-056.7:577.124 (2) |
Patologie. Medicină clinică (6964) |
Bazele materiale ale vieții. Biochimie. Biologie moleculară. Biofizică (664) |
SM ISO690:2012 SCURTUL, Maria, BOICIUC, Chiril, BLĂNIŢĂ, Daniela, SAKARA, Viktoria K., TARCOMNICU, Isabela, STAMBOULI, Danae, NICOLESCU, Alina Florica, DELEANU, Călin, GLADUN, Sergiu, UŞURELU, Natalia. Classical galactosemia- a case report. In: Buletin de Perinatologie, 2021, nr. 1(90), pp. 86-90. ISSN 1810-5289. |
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Buletin de Perinatologie | |||
Numărul 1(90) / 2021 / ISSN 1810-5289 | |||
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CZU: 616-053.2-056.7:577.124 | |||
Pag. 86-90 | |||
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Rezumat | |||
Background: Galactosemia is an autosomal recessive metabolic error which is caused by deficiency in four enzymes coded by GALT, GALK, GALE, and GALM genes. Accumulation of galactose and its metabolites causes nervous system injuries, cataracts, kidney and liver damage, etc. The form of galactosemia characterized by the most severe manifestations is classic galactosemia associated with mutations in GALT gene. The current report is based on a case of a 9 month old patient manifesting hepatosplenomegaly, failure to thrive and incipient cataract, suggesting galactosemia, inducing the process of diagnosis. The aim: Presentation of a galactosemia case and association of the biochemical parameters with the molecular genetics results in order to find a correlation between the genotype and the phenotype. Material and methods: Quantification of the total blood galactose was performed on dry blood spots at CytoGenomic laboratory in Bucharest, Romania. Urine galactose and galactitol levels were determined using NMR spectroscopy of body fluids at the “Petru Poni” Institute of Macromolecular Chemistry Iași, Romania. The DNA was obtained from patient’s whole blood samples using salt- out method. The identification of p.Q188R mutation in GALT gene was done using PCR/RFLP technique with visualization in polyacrylamide and agarose gel. The second mutation, p.K285N, was established using Sanger Sequencing of all GALT gene exons. Results: The DBS analysis revealed an elevated level of total galactose- 40.34 mg/dL. The further step was NMR Spectroscopy of body fluids revealed high levels of urine galactose- 10255 mmol/mol creatinine on the first day of diagnosis and 25287 mmol/mol creatinine on the second day. The galactitol value on the first day was 9244 mmol/mol creatinine, on the second day- 8777 mmol/mol creatinine, and on the day 62 after the beginning of the treatment- 714 mmol/mol creatinine. The molecular genetics analysis revealed that the patient’s GALT gene genotype is p.Q188R/p. K285N, presenting a classical form of galactosemia. Conclusion: Galactosemia is a serious inborn error of galactose metabolism that needs fast and efficient biochemical diagnosis through neonatal screening and molecular genetics study for an effective treatment for prevention of the multisystem complications that the disease may cause. |
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Cuvinte-cheie Galactosemia, GALT gene, classical galactosemia, inborn error of metabolism, Galactozemia, gena GALT, galactozemia clasică, eroare înnăscută de metabolism., Галактоземия, ген GALT, классическая галактоземия, врожденное нарушение метаболизма |
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