1. Presenters: PICU/AO1 UNIT Moderators: Dr Somwe Dr Mwenechanya
GALACTOSEMIA
Presenters: PICU/AO1 UNIT
Moderators: Dr Somwe
Dr Mwenechanya

2. Introduction
Galactosemia is a an autosomal recessive disorder in which galactose is not properly metabolized
Dietary lactose is broken down by lactase into glucose and galactose and then in a 3 step process galactose is converted to glucose
This metabolic pathway is important for the newborn whose main carbohydrate source is lactose

3. Cont…
Classic galactosemia, involves a deficiency of galactose-1-phosphate uridyl transferase
This results in the buildup of galactose-1-phosphate and other precursors, causing damage to many organs including the liver, kidneys, ocular lens, cardiac muscles, brain, gonadal tissues and erythrocytes

4. Cont…
The earlier the disorder is diagnosed and a galactose free diet is implemented, the less damage will ensue
Developmental delays and learning disabilities are common even with optimal dietary treatment
Incidence is 1:60000

5. Cont…

6. Pathophysiology Galactosemia is associated with 3 enzyme deficiencies
Galactokinase which converts galactose to galactose-1-phosphate
Uridine diphosphate (UDP) galactose-4-epimerase epimerizes UDP galactose to UDP glucose

7. Cont…
Galactose-1-phosphate uridyl transferase converts galactose-1-phosphate and UDP glucose to UDP galactose and glucose-1-phosphate

8. Leloir pathway of galactose metabolism

9. Types TYPE LOCUS ENZYME NAME TYPE I 9p13
Galactose-1-phosphate uridyl transferase
Classic galactocaemia
Type 2
17q24
galactokinase
Galactokinase deficiency
Type 3
1p36-p35
UDP galactose epimerase
Galactose epimerase deficiency

10. Clinical features Poor growth within the 1st few weeks of life
Feeding difficulties
Seizures
Jaundice
Hepatomegaly
Splenomegaly
E coli sepsis
cataracts

11. Investigations Newborn screening
Urine: Non-glucose reducing substances
Enzyme assay in red blood cells
Liver function tests
serum glucose level
Liver function test
Blood culture

12. Treatment Lactose and galactose free diet Infants can be fed with;
Soy formula
Meat based formula
Lactose free formula

13. Prognosis
If untreated, severe classic galactocaemia is a life threatening disorder
Babies who get an early diagnosis and strictly avoid milk and milk products live a relatively normal life
Mild intellectual impairment may develop even in people who avoid galactose

14. Complications Cataracts Cirrhosis
Death(if there is galactose in the diet)
Delayed speech development
Ovarian failure in females
Mental retardation
Tremors and uncontrollable motor function

15. Patient education
Dietary therapy requires both parental and patient education
Children need to be involved in dietary management as soon as is appropriate

16. THANK YOU