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{{Galactosemia}}
{{Galactosemia}}
{{CMG}}; {{AE}} {{DD}}
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==Overview==
==Overview==
 
[[Galactosemia]] gives rise to varied signs on [[clinical]] [[examination]].


==Physical Examination==
==Physical Examination==
* [[Hepatosplenomegaly]] <ref name="pmid263527">{{cite journal| author=Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B| title=[Clinical and biochemical diagnosis of galactosemia among our cases]. | journal=Probl Med Wieku Rozwoj | year= 1979 | volume= 8 | issue=  | pages= 63-9 | pmid=263527 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=263527  }} </ref>
*[[Cataract]]<ref name="pmid263527">{{cite journal| author=Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B| title=[Clinical and biochemical diagnosis of galactosemia among our cases]. | journal=Probl Med Wieku Rozwoj | year= 1979 | volume= 8 | issue=  | pages= 63-9 | pmid=263527 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=263527  }} </ref>
* [[Vitreous]] [[hemorrhage]]<ref name="pmid15976715">{{cite journal| author=Laumonier E, Labalette P, Morisot C, Mouriaux F, Dobbelaere D, Rouland JF| title=[Vitreous hemorrhage in a neonate with galactosemia. A case report]. | journal=J Fr Ophtalmol | year= 2005 | volume= 28 | issue= 5 | pages= 490-6 | pmid=15976715 | doi=10.1016/s0181-5512(05)81085-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15976715  }} </ref>
*[[Ascites]]<ref name="pmid28123333">{{cite journal| author=Atik SU, Gürsoy S, Koçkar T, Önal H, Adal SE| title=Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. | journal=Turk Pediatri Ars | year= 2016 | volume= 51 | issue= 4 | pages= 204-209 | pmid=28123333 | doi=10.5152/TurkPediatriArs.2016.3759 | pmc=5242248 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28123333  }} </ref>
*Poor [[weight]] gain, [[lethargy]], [[hypotonia]]<ref name="pmid28281081">{{cite journal| author=Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I| title=Sweet and sour: an update on classic galactosemia. | journal=J Inherit Metab Dis | year= 2017 | volume= 40 | issue= 3 | pages= 325-342 | pmid=28281081 | doi=10.1007/s10545-017-0029-3 | pmc=5391384 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28281081  }} </ref>
* Bulging [[fontanelle]] due to [[pseudotumor]] [[cerebri]]<ref name="pmid5444582">{{cite journal| author=Huttenlocher PR, Hillman RE, Hsia YE| title=Pseudotumor cerebri in galactosemia. | journal=J Pediatr | year= 1970 | volume= 76 | issue= 6 | pages= 902-5 | pmid=5444582 | doi=10.1016/s0022-3476(70)80373-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5444582  }} </ref>
* [[Chorea]]<ref name="pmid19391011">{{cite journal| author=Shah PA, Kuchhai FA| title=Galactosemia with chorea--an unusual presentation. | journal=Indian J Pediatr | year= 2009 | volume= 76 | issue= 1 | pages= 97-8 | pmid=19391011 | doi=10.1007/s12098-009-0037-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19391011  }} </ref>
* Poor [[dentition]], [[skin]] [[hyperpigmentation]], [[joint]] [[deformities]] <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>


==References==


==References==
{{Reflist|2}}
{{Reflist|2}}


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Latest revision as of 23:02, 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

Galactosemia gives rise to varied signs on clinical examination.

Physical Examination

References

  1. ↑ 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.
  2. ↑ Laumonier E, Labalette P, Morisot C, Mouriaux F, Dobbelaere D, Rouland JF (2005). "[Vitreous hemorrhage in a neonate with galactosemia. A case report]". J Fr Ophtalmol. 28 (5): 490–6. doi:10.1016/s0181-5512(05)81085-x. PMID 15976715.
  3. ↑ Atik SU, Gürsoy S, Koçkar T, Önal H, Adal SE (2016). "Clinical, molecular, and genetic evaluation of galactosemia in Turkish children". Turk Pediatri Ars. 51 (4): 204–209. doi:10.5152/TurkPediatriArs.2016.3759. PMC 5242248. PMID 28123333.
  4. ↑ Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I (2017). "Sweet and sour: an update on classic galactosemia". J Inherit Metab Dis. 40 (3): 325–342. doi:10.1007/s10545-017-0029-3. PMC 5391384. PMID 28281081.
  5. ↑ Huttenlocher PR, Hillman RE, Hsia YE (1970). "Pseudotumor cerebri in galactosemia". J Pediatr. 76 (6): 902–5. doi:10.1016/s0022-3476(70)80373-0. PMID 5444582.
  6. ↑ Shah PA, Kuchhai FA (2009). "Galactosemia with chorea--an unusual presentation". Indian J Pediatr. 76 (1): 97–8. doi:10.1007/s12098-009-0037-x. PMID 19391011.
  7. ↑ 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).

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