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 other diagnostic studies
Introduction
Overview
Overview
In addition to the commonly performed laboratory tests, histopathology and genetics also aid in confirmation of galactosemia.
Other Diagnostic Studies
Other Diagnostic Studies
- Liver biopsy[1]: Hepatocyte degeneration showing minimal necro-inflammatory changes along with moderate hepatocellular and canalicular cholestasis and bile thrombi
- Molecular genetic testing: Detection of biallelic mutations in GALT, GALK, GALE genes[2]
References
References
- ↑ Gorial FI, Mohammed MJ (2019). “Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations”. Mediterr J Rheumatol. 30 (2): 123–124. doi:10.31138/mjr.30.2.123. PMC 7045964 Check
|pmc=value (help). PMID 32185352 Check|pmid=value (help). - ↑ Seyrantepe V, Ozguc M, Coskun T, Ozalp I, Reichardt JK (1999). “Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online”. Hum Mutat. 13 (4): 339. doi:10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S. PMID 10220154.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]