PBL 4 (It’s All in The Genes)

PBL 4 (It’s All in The Genes)

1. Galactosemia

   • is a family of genetic disorders that result from compromised ability to metabolize the sugar galactose
   • is an inherited disorder
   • is due to GALT enzyme deficiency
   • Symptoms
     • 1. Irritability
     • 2. Lethargy
     • 3. Hypotonia
     • 4. Vomiting
     • 5. jaundice
   • Tests
     • Ketones in the urine
     • Enzyme activity in the red blood cells
   • management
     • Refer patients to a dietitian
     • discontinue ingestion of lactose-containing formula
   • types
     • 1. Classic + clinic variant galactosemia (Type 1 galactosemia)
     • 2. Galactokinase deficiency (Type 2 galactosemia)
     • 3. Epimerase deficiency (Type 3 galactosemia)

2. simple sugars

3. examinations

   • FeCl3 in urine
     • if positive indicate that the person is having one of phenylketones disorders
   • Blood Gas test
     • It measures the acidity (pH) and levels of oxygen and carbon dioxide in the blood from the artery.
   • Blood Sugar test
     • detect hyperglycaemia or hypoglycaemia
   • Thyroid function test
     • The T4 test and the TSH test are the two most common thyroid function tests
     • it shows poor growth, less feeding and hypotonia
   • head CT scanning
     • used to create detailed pictures of the skull, brain, paranasal sinuses, ventricles, and eye sockets.
   • Kidney Function Test
     • estimate GFR which tells the doctor how quickly your kidneys are clearing waste from your body.
   • Liver Function test
     • ordered as a routine lab test

4. pedigree

5. early detection of inborn metabolic disorders

   • blood spot test taken from baby’s heel used to screen ALL newborns for level of the GALT enzyme within 24 hours of life

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