Galactosemia history and symptoms
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
Galactosemia is primarily seen in the neonatal period with a wide range of symptoms.
History
Galactosemia is manifested mostly in the first week of life. Hence, diagnosis is mainly clinical and by newborn screening, some being detected occasionally by family history.[1]
Symptoms [1]
- Jaundice
- Vomiting and feeding difficulty
- Diarrhea
- Failure to thrive on galactose containing foods e.g. breast milk, formulas containing cow’s milk [2]
- Convulsions[3]
References
- ↑ 1.0 1.1 Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B (1979). “[Clinical and biochemical diagnosis of galactosemia among our cases]”. Probl Med Wieku Rozwoj. 8: 63–9. PMID 263527.
- ↑ Lewis V, Welch F, Cherry F, Flood E, Marble M (1995). “Galactosemia: clinical features, diagnosis and management. A case report”. J La State Med Soc. 147 (6): 262–5. PMID 7642981.
- ↑ Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A (2016). “Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center”. Indian Pediatr. 53 (1): 27–31. doi:10.1007/s13312-016-0784-5. PMID 26840667.
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