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University of karbala
College of medicine
First stage
PBL Week 2
Zaid Hashim Yousif
Diagnosis of galactosemia
examination
We can detect and determine the disease by
observation signs and symptoms of the disease
• Anorexic
• Irritable
• Pale
• Vomiting
• Abdomen was getting and large
• The skin turned yellowish in colour
• Growth slower
Family medical history you can use pedigree
Examination
• The child weak and unable to grasp the
doctor’s finger
• The skin turgor was decrease
• Eye and skin show a yellowish discoloration
• The growth parameters were delay
Examination of Abdominal
• Showed grossly enlarge of liver (hepatomegaly)
• Presence of ascites
• Ascites is
the accumulation of fluid in the peritoneal cavity,
causing abdominal swelling.
Abdominal distension due to ascites
galactosemia
galactosemia

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galactosemia