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It's All in the Genes - Galactosemia - Coggle Diagram
It's All in the Genes - Galactosemia
Studied by
Genetics
Inheritance
Autosomal Recessive
Homozygous Mutations
Heterozygous Carriers
Consanguinity
Second-Degree Relatives
First-Degree Cousins
Gene Mutation
GALT Gene
Understood better by
Cause
Galactose Metabolism Dysfunction
Galactosemia Pathway
Galactose to Glucose Conversion
Enzyme Deficiency
Galactokinase
UDP-Galactose-4-Epimerase
Inherited Mutation
Parental Carriers
Genetic Variants
Seen as
Clinical Presentation
Progressive Symptoms
Jaundice
Bilirubin Buildup
Liver Function
Hepatomegaly
Liver Enzymes
Organ Damage
Growth Delay
Height and Weight
Early Symptoms
Loss of Appetite
Food Aversions
Weight Loss
Irritability
Feeding Difficulties
Behavioral Changes
Better understood by
Diagnosis
Confirmatory Testing
Galactose-1-Phosphate Uridyl Transferase
Genetic Sequencing
Mutational Analysis
Genetic Testing
DNA Testing
Prenatal Testing
Blood Tests
Galactose Levels
Hypoglycemia
Hypergalactosemia
Enzyme Deficiency
GALT Activity Assay
Biomarker Evaluation
Extend Life by
Treatment
Lifelong Management
Regular Follow-up
Clinical Checkups
Growth Monitoring
Compliance
Adherence to Diet
Medication Management
Dietary Restriction
Elimination of Galactose
Dairy-Free Diet
Galactose-Free Foods
Specialized Formula
Nutritional Supplements
Galactose-Free Formulas
Obstacles like
Impact on Development
Social
Impact on Relationships
Family Dynamics
Peer Interactions
Coping Strategies
Counseling
Psychological Support
Cognitive
Learning Challenges
Educational Support
Developmental Interventions
Neurological Implications
Intellectual Disability
Cognitive Delays
Make better choices by
Family Planning
Genetic Counseling
Testing Options
Newborn Screening
Prenatal Testing
Risks in Future Pregnancies
Genetic Counseling Sessions
Recurrence Risk
Informed Decisions
Early Detection
Antenatal Screening
Genetic Carrier Testing
Consent
Informed Consent Process
Ethical Considerations