Severe galactosemia of type 1 in a premature baby: difficulties of differential diagnosis

Galactosemia is a hereditary disease characterized by impaired galactose metabolism. A newborn fed by breast milk or an adapted infant formula quickly develop clinical manifestations of the disease associated with accumulation of galactose and its toxic metabolites in the body. Neonatal screening is currently used for early diagnosis of galactosemia and prevention of life-threatening complications. However, this disease may have a crisis course with rapid progression of the symptoms, thus requiring a multidisciplinary approach in the diagnosis and therapy, as well as doctors’ alertness while expecting for screening results in preterm babies. This article presents up-to-date literature data and clinical observation of the preterm newborn with a severe course of the classical galactosemia.

1. Galactosemia in children: clinical guidelines, treatment protocols [Electronic resource]. https://bz.medvestnik.ru/nosology/Galak-tozemiya-u-detei.html (The link is active on: 03.03.2020.) (in Russ.).

2. Bzduch V., Tomcikova D., Gerinec A., Behulova D. Cataract and early nystagmus due to galactokinase deficiency. J Inherit Metab Dis 2017; 40(5): 749-750. DOI: 10.1007/s10545-017-0040-8

3. Galactokinase Deficiency disease: Malacards — Research Articles, Drugs, Genes, Clinical Trials [Electronic resource]. https://www.malacards.org/card/galactokinase_deficiency (The link is active on: 22.02.2020).

4. Taylor Fischer S, Frederick A.B., Tran V., Li S, Jones D.P., Fridovich-Keil J.L. Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic studyro J Inherit Metab Dis 2019; 42(2): 254—263. DOI: 10.1002/jimd.12007

5. Berry G.T., Elsas L.J. Introduction to the Maastricht workshop: lessons from the past and new directions in galacto-semiaю J Inherit Metab Dis 2011; 34(2): 249—255. DOI: 10.1007/s10545-010-9232-1

6. Grama A., Blaga L., Nicolescu A., Deleanu C., Militaru M., Cainap S.S. et al. Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failureю Medicina 2019; 55(4): 91. DOI: 10.3390/medicina55040091

7. Demirbas D., HuangX., Daesety V., Feenstra S, Haskovic M., Qi W. et al. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab 2019; 126(4): 368—376. DOI: 10.1016/j.ymgme.2019.01.016

8. Fridovich-Keil J.L., Gambello M.J., Singh R.H., Sharer J.D. Duarte Variant Galactosemia. In: GeneReviews®. Adam M.P. et al. (eds). Seattle (WA): University of Washington, Seattle, 2014 [Electronic resource]. URL: https://www.ncbi.nlm.nih.gov/books/NBK258640/ (The link is active on: 25.05.2020.)

9. Berry G.T. Classic Galactosemia and Clinical Variant Galactosemia. In: GeneReviews®. Adam M.P. et al. (eds). Seattle (WA): University of Washington, Seattle, 2017 [Electronic resource]. URL: https://www.ncbi.nlm.nih.gov/books/NBK1518/ (The link is active on: 25.05.2020.)

10. Tang M., Odejinmi S.I., Vankayalapati H., Wierenga K.J., Lai K. Innovative Therapy for Classic Galactosemia — Tale of Two HTS. Mol Genet Metab 2012; 105(1): 44—55. DOI: 10.1016/j.ymgme.2011.09.028

11. Chhapan R.J., Yerramneni R., Ramappa M. Diagnosing the oil drop: A case report and review of the literature. Indian J Ophthalmol 2019; 67(10): 1705-1706. DOI:10.4103/ijo.IJO_2022_18

12. Reference G.H. Galactosemia site [Electronic resource]. Genetics Home Reference. URL: https://ghr.nlm.nih.gov/con-dition/galactosemia (The link is active on: 22.02.2020.)

13. Volodin N.N., Degtyarev D.N., Degtyareva A.V., Narogan M.V. Jaundice of newborn. Moscow, GEOTAR-Media, 2018; 192 (in Russ.)

14. Takci S., Kadayifcilar S., Coskun T., Yigit S., Hismi B. A Rare Galactosemia Complication: Vitreous Hemorrhage. JIMD Reports 2011; 5: 89—93. DOI: 10.1007/8904_2011_103

15. Hegarty R., Hadzic N., Gissen P., Dhawan A. Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King’s College Hospital experience. Eur J Pediatr 2015; 174(10): 1387—1392. DOI: 10.1007/s00431-015-2540-6

16. Welsink-Karssies M.M., Oostrom K.J., Hermans M.E., Hol-lak CE.M., Janssen MC.H., Langendonk J.G. et al. Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities. Orphanet J Rare Dis 2020; 15(1): 42-54. DOI: 10.1186/s13023-019-1277-0

17. Kotb M.A., Mansour L., Shamma R.A. Screening for galactosemia: is there a place for it? Int J Gen Med 2019; 12: 193— 205. DOI: 10.2147/IJGM.S180706

18. Levy H.L., Sepe S.J., Shih V.E., Vawter G.F., Klein J.O. Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med 1977; 297(15): 823—825.

19. Rathi N., Rathi A. Galactosemia Presenting as Recurrent Sepsis. J Trop Pediatr 2011; 57(6): 487—489. DOI: 10.1093/ tropej/fmr018

20. Barr P.H. Association of Escherichia coli sepsis and galactosemia in neonates. J Am Board Fam Pract 1992; 5(1): 89—91.

21. Medsinge A., Nischal K.K. Pediatric cataract: challenges and future directions. Clin Ophthalmol 2015; 9: 77—90. DOI: 10.2147/OPTH.S59009

22. Coelho A.I., Rubio-Gozalbo M.E., Vicente J.B., Rivera I. Sweet and sour: an update on classic galactosemia. J Inheme Metab Dis 2017; 40(3): 325—342. DOI: 10.1007/s10545-017-0029-3

23. Welling L., Bernstein L.E., Berry G.T., Burlina A.B., Eys-kens F, Gautschi M. et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis 2017; 40(2): 171— 176. DOI: 10.1007/s10545-016-9990-5

24. Fridovich-Keil J.L., Gubbels C.S., Spencer J.B., Sanders R.D., Land J.A., Rubio-Gozalbo E. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis 2011; 34(2): 357—366. DOI: 10.1007/s10545-010-9221-4

25. Order of the Ministry of health and social development of the Russian Federation 22.03.2006 N185 About a mass examination of newborn children for hereditary diseases (together with the Regulation on the organization of a mass examination of newborn children for hereditary diseases, Recommendations on the taking of blood samples during the mass examination of newborn children for hereditary diseases) [Electronic resource]. URL: https://ppt.ru/docs/prikaz/minzdravsotsrazvitiya/n-185-70165 (The link is active on: 03.03.2020.) (in Russ.)]

26. Lak R., Yaz.diz.adeh B., Davari M., Nouhi M., Kelishadi R. Newborn screening for galactosaemia. Cochrane Database Syst Rev 2017; 12: CD012272. DOI: 10.1002/14651858.CD012272.pub2

27. Rubio-Gozalbo M.E., Haskovic M., Bosch A.M., Burnyte B., Coelho A.I., Cassiman D. et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis 2019; 14(1): 86. DOI: 10.1186/s13023-019-1047-z

28. Ozgun N., Celik M., Akdeniz O., Ozbek M.N., Bulbul A., An-lar B. Early neurological complications in children with classical galactosemia and p.gln188arg mutation. Int J Dev Neu-rosci 2019; 78: 92—97. DOI: 10.1016/j.ijdevneu.2019.07.004