ABMGG Clinical Biochemical Genetics study plan
ABMGG Clinical Biochemical Genetics · Give each week a clear focus.
8 weeks · About 6 hours per week
Clinical and laboratory diagnosis of inborn errors of metabolism
Categorize inborn errors of metabolism by biochemical pathway and clinical presentation
Explain the diagnostic approach to a patient with suspected metabolic disorder, including initial and confirmatory tests
Differentiate key laboratory findings (e.g., ammonia, lactate, ketones, organic acids) in representative disorders
Your checkpoint
Create a one-page diagnostic algorithm for a child with acute metabolic decompensation.
Clinical and laboratory diagnosis of inborn errors of metabolism & Pathophysiology and natural history of metabolic disorders
Describe the pathophysiology of aminoacidopathies and organic acidemias
Correlate genotype with biochemical phenotype for at least three disorders
Outline the natural history and complications of phenylketonuria and maple syrup urine disease
Your checkpoint
Write a 500-word summary comparing the clinical course of PKU and MSUD.
Clinical and laboratory diagnosis of inborn errors of metabolism & Pathophysiology and natural history of metabolic disorders
Explain the biochemical basis of fatty acid oxidation defects and their acute presentation
Identify the key laboratory markers for mitochondrial disorders and their interpretation
Discuss the pathophysiology of lysosomal storage disorders and their progressive nature
Your checkpoint
Prepare a table of fatty acid oxidation disorders with corresponding enzyme deficiencies, acute triggers, and lab findings.
Biochemical and molecular testing methodologies (including newborn screening)
Compare and contrast biochemical testing methods (e.g., mass spectrometry, chromatography, enzyme assays) for metabolic disorders
Describe the principles and limitations of newborn screening for metabolic diseases
Interpret tandem mass spectrometry results and follow-up testing protocols
Explain the role of molecular testing in confirming biochemical diagnoses
Your checkpoint
Design a flowchart for the confirmation of a positive newborn screen for an organic acidemia.
Biochemical and molecular testing methodologies (including newborn screening) & Treatment and management of metabolic disorders
Evaluate the utility of enzyme assays and genetic testing in specific metabolic disorders
Outline acute management of metabolic crises (e.g., hyperammonemia, acidosis, hypoglycemia)
Describe dietary and pharmacological treatments for common metabolic disorders
Your checkpoint
Create a management protocol for acute hyperammonemia in a neonate.
Treatment and management of metabolic disorders
Explain the principles of dietary therapy for PKU, including tetrahydrobiopterin responsiveness
Discuss the use of enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders
Identify indications and complications of liver transplantation for metabolic disorders
Develop a monitoring plan for a patient on a protein-restricted diet
Your checkpoint
Write a treatment plan for a patient with MSUD including dietary prescriptions and monitoring parameters.
Treatment and management of metabolic disorders & Genetic counseling, communication, and laboratory stewardship/quality
Counsel a family on recurrence risk and carrier testing for an autosomal recessive metabolic disorder
Explain the ethical and psychosocial aspects of newborn screening and confirmatory testing
Describe quality assurance measures in a biochemical genetics laboratory
Your checkpoint
Role-play a genetic counseling session for parents of a child with a newly diagnosed metabolic disorder (script or recording).
Genetic counseling, communication, and laboratory stewardship/quality & Clinical and laboratory diagnosis of inborn errors of metabolism & Biochemical and molecular testing methodologies (including newborn screening) & Pathophysiology and natural history of metabolic disorders & Treatment and management of metabolic disorders
Integrate knowledge across domains to solve complex case scenarios
Evaluate laboratory quality indicators and apply improvement strategies
Review and reinforce high-yield concepts from all domains
Your checkpoint
Complete a comprehensive self-assessment exam covering all domains and achieve ≥80%.
Milestones
Week 2: Successfully explain the biochemical and clinical differences between PKU and MSUD to a peer.
Week 4: Score ≥80% on a practice quiz covering domains 1, 2, and 3.
Week 6: Present a treatment plan for a complex metabolic patient to a mentor and receive feedback.
Week 8: Pass a comprehensive mock exam with a score of at least 80% overall and no domain below 70%.