Galactosemia pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]


Galactose is an important metabolite of the human body both for neonatal and adult health, playing a vital role in systemic and cognitive development .Abnormalities in any of the enzymes involved in each of the steps of the Leloir pathway can give rise to the pathological condition called galactosemia.



Galactose is metabolised in the body through the Leloir pathway. [2]


Abnormalities in any of the enzymes involved in each of the steps of the Leloir pathway can give rise to the pathological condition called galactosemia.


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  2. Holden HM, Rayment I, Thoden JB (2003). "Structure and function of enzymes of the Leloir pathway for galactose metabolism". J Biol Chem. 278 (45): 43885–8. doi:10.1074/jbc.R300025200. PMID 12923184.
  3. Schmoldt A, Benthe HF, Haberland G (1975). "Digitoxin metabolism by rat liver microsomes". Biochem Pharmacol. 24 (17): 1639–41. PMID Check |pmid= value (help).
  4. Gitzelmann R (1995). "Galactose-1-phosphate in the pathophysiology of galactosemia". Eur J Pediatr. 154 (7 Suppl 2): S45–9. doi:10.1007/BF02143803. PMID 7671964.
  5. Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ (2003). "GALT deficiency causes UDP-hexose deficit in human galactosemic cells". Glycobiology. 13 (4): 285–94. doi:10.1093/glycob/cwg033. PMID 12626383.
  6. Coss KP, Treacy EP, Cotter EJ, Knerr I, Murray DW, Shin YS; et al. (2014). "Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?". Mol Genet Metab. 113 (3): 177–87. doi:10.1016/j.ymgme.2014.08.004. PMID 25174965.
  7. Fekete E, Karaffa L, Sándor E, Bányai I, Seiboth B, Gyémánt G; et al. (2004). "The alternative D-galactose degrading pathway of Aspergillus nidulans proceeds via L-sorbose". Arch Microbiol. 181 (1): 35–44. doi:10.1007/s00203-003-0622-8. PMID 14624333.
  8. "StatPearls". 2022. PMID 32809518 Check |pmid= value (help).
  9. Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE; et al. (2006). "Epimerase-deficiency galactosemia is not a binary condition". Am J Hum Genet. 78 (1): 89–102. doi:10.1086/498985. PMC 1380226. PMID 16385452.
  10. Yazici H, Canda E, Altınok YA, Ucar SK, Coker M (2022). "Two siblings with galactose mutarotase deficiency: Clinical differences". JIMD Rep. 63 (1): 25–28. doi:10.1002/jmd2.12263. PMC 8743342 Check |pmc= value (help). PMID 35028268 Check |pmid= value (help).

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