Galactosemia physical examination

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Galactosemia Microchapters


Patient Information


Historical Perspective




Differentiating Galactosemia from other Diseases

Epidemiology and Demographics

Risk Factors


Natural History, Complications and Prognosis


History and Symptoms

Physical Examination

Laboratory Findings


Chest X Ray



Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies


Medical Therapy


Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

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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]


Galactosemia gives rise to varied signs on clinical examination.

Physical Examination


  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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