6748635
PBL 4 (It’s All in The Genes)
- 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
- 1. Irritability
- Tests
- Ketones in the urine
- Enzyme activity in the red blood cells
- Ketones in the urine
- management
- Refer patients to a dietitian
- discontinue ingestion of
lactose-containing formula
- Refer patients to a dietitian
- types
- 1. Classic + clinic variant galactosemia (Type 1 galactosemia)
- 2. Galactokinase deficiency (Type 2 galactosemia)
- 3. Epimerase deficiency (Type 3 galactosemia)
- 1. Classic + clinic variant galactosemia (Type 1 galactosemia)
- is a family of genetic disorders that result from
compromised ability to metabolize the sugar galactose
- simple sugars
- examinations
- FeCl3 in urine
- if positive indicate that the person is
having one of phenylketones disorders
- 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.
- 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
- 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
- The T4 test and the TSH test are the two
most common thyroid function tests
- head CT scanning
- used to create detailed pictures of the skull, brain,
paranasal sinuses, ventricles, and eye sockets.
- 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.
- 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
- ordered as a routine lab test
- FeCl3 in urine
- pedigree
- 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
- 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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