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A Crucial Parameter of Galactosemia Include Symptoms, Causes, Types, Diagnosis and Treatment

Srinivas G., Muralinath E., Vijay Digamber Domple, Shraddha D. Sirsat, Lalit Kumar Saini, Kalyan C., Guruprasad M., Sony Sharlet E., T. Nikhil, V. Yaswanth Sai, D. Kusuma Latha, R. Faith Rani, P. Megha Varna

Abstract


The term "galactose in the blood" refers to galactosemia. Because of this genetic condition, your body is unable to break down galactose, which causes it to accumulate to toxic levels, particularly in your blood. Breast milk, dairy products, and the majority of infant formulas should be avoided by those who have galactosemia. Infants with galactosemia may not survive if prompt diagnosis is not obtained.


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References


Fridovich-Keil, J. L., & Walter, J. H. (2015). Galactosemia. In D. Valle, A. L. Beaudet, B. Vogelstein, K. W. Kinzler, S. E. Antonarakis, A. Ballabio, K. Gibson, & G. Mitchell (Eds.), The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID) (Chap. 72). McGraw-Hill.

Berry, G. T., Walter, J. H., & Fridovich-Keil, J. L. (2016). Disorders of galactose metabolism. In J. M. Saudubray, G. van den Berghe, & J. H. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (6th ed., pp. 139–147). Springer-Verlag Inc.

Berry, G. T. (2003). Galactosemia. In NORD Guide to Rare Disorders (pp. 446). Lippincott Williams & Wilkins.

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., et al. (2019). The natural history of classic galactosemia: Lessons from the GalNet registry. Orphanet Journal of Rare Diseases, 14, 86. https://doi.org/10.1186/s13023-019-1047-z

Welling, L., Bernstein, L. E., Berry, G. T., et al. (2017). International clinical guideline for the management of classical galactosemia: Diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Diseases, 40(2), 171-176. https://doi.org/10.1007/s10545-016-9990-5

Pyhtila, B. M., Shaw, K. A., Neumann, S. E., & Fridovich-Keil, J. L. (2015). Newborn screening for galactosemia in the United States: Looking back, looking around, and looking ahead. JIMD Reports, 15, 79-93. [PubMed: 24718839].

Timson, D. J. (2015). The molecular basis of galactosemia – Past, present, and future. Gene, Epub ahead of print. [PubMed: 26143117].

Lai, K., Boxer, M. B., & Marabotti, A. (2014). GALK inhibitors for classic galactosemia. Future Medicinal Chemistry, 6(9), 1003-1015. [PubMed: 25068984].

Karadag, N., Zenciroglu, A., Eminoglu, F. T., Dilli, D., Karagol, B. S., Kundak, A., Dursun, A., Hakan, N., & Okumus, N. (2013). Literature review and outcome of classic galactosemia diagnosed in the neonatal period. Clinical Laboratory, 59(9-10), 1139-1146.

Potter, N. L., Nievergelt, Y., & Shriberg, L. D. (2013). Motor and speech disorders in classic galactosemia. JIMD Reports, 11, 31-41. [PMC free article: PMC3755563] [PubMed: 23546812].

Hoffmann, B., Dragano, N., & Schweitzer-Krantz, S. (2012). Living situation, occupation, and health-related quality of life in adult patients with classic galactosemia. Journal of Inherited Metabolic Diseases, 35, 1051–1058. [PubMed: 22447152].

Waisbren, S. E., Potter, N. L., Gordon, C. M., Green, R. C., Greenstein, P., Gubbels, C. S., Rubio-Gozalbo, E., Schomer, D., Welt, C., Anastasoaie, V., D’Anna, K., Gentile, J., Guo, C. Y., Hecht, L., Jackson, R., Jansma, B. M., Li, Y., Lip, V., Miller, D. T., Murray, M., Power, L., Quinn, N., Rohr, F., Shen, Y., Skinder-Meredith, A., Timmers, I., Tunick, R., Wessel, A., Wu, B. L., Levy, H., Elsas, L., & Berry, G. T. (2012). The adult galactosemic phenotype. Journal of Inherited Metabolic Diseases, 35, 279–286. [PMC free article: PMC3641771] [PubMed: 21779791].

Bosch, A. M. (2011). Classic galactosemia: Dietary dilemmas. Journal of Inherited Metabolic Diseases, 43(2), 257–260. [PubMed: 20625932][PMC free article: 3063550].

Doyle, C. M., Channon, S., Orlowska, D., & Lee, P. J. (2010). The neuropsychological profile of galactosemia. Journal of Inherited Metabolic Diseases, 33(5), 603–609. [PubMed: 20607611].

Shield, J. P., Wadsworth, E. J., MacDonald, A., Stephenson, A., Tyfield, L., Holton, J. B., & Marlow, N. (2000). The relationship of genotype to cognitive outcome in galactosemia. Archives of Disease in Childhood, 83, 248–250. [PMC free article: PMC1718484] [PubMed: 10952646].

Berry, G. T. (2021, March 11). Classic galactosemia and clinical variant galactosemia. In M. P. Adam, H. H. Ardinger, R. A. Pagon, et al. (Eds.), GeneReviews® [Internet]. University of Washington, Seattle. Available from https://www.ncbi.nlm.nih.gov/books/NBK1518/ Accessed January 12, 2022.

Fridovich-Keil, J., Bean, L., He, M., et al. (2021, March 4). Epimerase deficiency galactosemia. In M. P. Adam, H. H. Ardinger, R. A. Pagon, et al. (Eds.), GeneReviews® [Internet]. University of Washington, Seattle. Available from https://www.ncbi.nlm.nih.gov/books/NBK51671/


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