Galactosemia other diagnostic studies: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Galactosemia}} | {{Galactosemia}} | ||
{{CMG}} | {{CMG}} {{AE}} {{Sujaya}} | ||
==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]]<ref name="pmid32185352">{{cite journal| author=Gorial FI, Mohammed MJ| title=Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations. | journal=Mediterr J Rheumatol | year= 2019 | volume= 30 | issue= 2 | pages= 123-124 | pmid=32185352 | doi=10.31138/mjr.30.2.123 | pmc=7045964 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32185352 }} </ref>: [[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]]<ref name="pmid10220154">{{cite journal| author=Seyrantepe V, Ozguc M, Coskun T, Ozalp I, Reichardt JK| title=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. | journal=Hum Mutat | year= 1999 | volume= 13 | issue= 4 | pages= 339 | pmid=10220154 | doi=10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10220154 }} </ref> | |||
==References== | |||
{{Reflist|2}} | {{Reflist|2}} | ||
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[[Category: | [[Category:Needs content]] | ||
[[Category: | [[Category:Endocrinology]] | ||
[[Category:Needs overview]] | |||
Latest revision as of 23:11, 4 July 2022
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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]
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.