Galactosemia other diagnostic studies
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
In addition to the commonly performed laboratory tests, histopathology and genetics also aid in confirmation of galactosemia.
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
- ↑ 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.
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH