Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Galactosemia history and symptoms
Introduction
Overview
Overview
Galactosemia is primarily seen in the neonatal period with a wide range of symptoms.
History
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]
Symptoms [1]
References
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]