Evening Session
Course Introduction Participants will receive an overview of the course objectives, scheduling, and content.
Pre-Course Self Evaluation Participants will evaluate their current level of knowledge and understanding of inborn errors of metabolism.
SESSION I: Urea Cycle/Organic Acid/Amino Acid disorders
Morning Session
Didactic Session I: Urea cycle disorders This session will describe the clinical and biochemical phenotypes of urea cycle disorders with a focus on disease recognition and diagnosis.
Didactic Integration Workshop I: Urea cycle disorders This workshop will apply the principles of the didactic session to clinical cases on urea cycle disorders.
Didactic Session II: Organic acidemias This session will provide an overview of the clinical and biochemical phenotypes of organic acidemias. The focus will be on disease recognition and diagnosis.
Didactic Integration Workshop II: Organic acidemias In this workshop, the principles outlined in the didactic session will be applied to clinical cases incorporating information presented the rest of the morning.
Afternoon Session
Laboratory session I This lecture will review common metabolic laboratory methodologies, including amino acid measurements, GC/MS, and tandem mass spectroscopy.
Didactic Session III: Amino acid disorders (PKU, homocystinuria, tyrosinemia) In this session, the clinical and biochemical phenotypes of amino acid disorders will be discussed, with a focus on disease recognition and diagnosis.
Diagnosis & Management Workshop I: Urea cycle disorders and organic acidemias This workshop will use a case-based approach to illustrate the evaluation and treatment of urea cycle disorders and organic acidemias, including disease and emergency therapy. It will also encourage participants to consider the rationale behind therapy.
SESSION II: Cofactor disorders and Disorders of Energy Metabolism and Lactic Acidemia
Didactic Integration Workshop I: Disorders of fasting intolerance This workshop will help participants apply information on disorders of fasting intolerance to clinical cases.
Didactic Session I: Defects in gluconeogenesis This session will provide an overview of the clinical and biochemical phenotypes of defects in gluconeogenesis. The focus will be on disease recognition and diagnosis.
Didactic Session II: Defects in fatty acid oxidation and ketone body metabolism Disorders in fatty acid oxidation and ketone body metabolism will be presented, with emphasis on their clinical and biochemical phenotypes.
Diagnosis and Management Workshop I: Disorders of fasting intolerance In this workshop, clinical cases will be used to highlight diagnosis and management of disorders of fasting tolerance.
Didactic Session III: Defects in pyruvate metabolism and OXPHOS This session will describe the clinical and biochemical phenotypes of defects in pyruvate metabolism and oxidative phosphorylation. It will focus on disease recognition and diagnosis.
Diagnosis and Management Workshop II: Disorders of pyruvate metabolism and OXPHOS This case-based workshop will highlight diagnosis-based management for mitochondrial diseases. It will follow up on the previous day's approach of considering the rationale behind therapies postulated for the management of mitochondrial diseases.
SESSION III: Disorders of Carbohydrate Metabolism, Cofactor Disorders, Disorders of Glycosylation, Defects in Creatine Metabolism
Didactic Session I: Glycogen storage diseases This session will describe the clinical and biochemical phenotypes of glycogen storage diseases. The focus will be on disease recognition and diagnosis.
Didactic Session II: Galactosemia, hereditary fructose intolerance In this session, participants will learn about the clinical and biochemical phenotypes of galactosemia and hereditary fructose intolerance.
Didactic Integration Workshop I: Disorders of carbohydrate metabolism This workshop will integrate the principles from the lectures and apply them to a clinical case (or cases) on carbohydrate metabolism disorders.
Diagnosis/Mgmt Workshop I: Disorders of carbohydrate metabolism This case-based workshop will focus on diagnosis-based management of carbohydrate metabolism disorders.
Didactic Session III: Disorders of metal cofactors (copper, molybdenum) This session will describe the clinical and biochemical phenotypes of metal cofactor disorders, with a focus on disease recognition and diagnosis.
Didactic Session IV: Disorders of glycosylation This session will provide an overview of the clinical and biochemical phenotypes of glycosylation disorders. The focus will be on disease recognition and diagnosis.
Didactic Session V: Disorders of creatine metabolism In this session, an overview of the clinical and biochemical phenotypes of creatine metabolism disorders will be provided.
Didactic Session VI: Disorders of neurotransmitter metabolism. This session will examine inherited defects in CNS neurotransmitter metabolism.
Diagnosis and Management Workshop II: Disorders of metal cofactors, glycosylation, creatine This workshop will use clinical cases to highlight diagnosis and management of disorders of metal cofactors, glycosylation, and creatine.
SESSION IV: Lysosomal Storage Diseases
Didactic Session I: Defects of vitamin metabolism (cobalamin, folate, biotin) This session will provide an overview of the clinical and biochemical phenotypes of vitamin metabolism defects with a focus on disease recognition and diagnosis.
Didactic Session II: Introduction to Lysosomal Storage Disorders This session will define different types of lysosomal storage disorders.
Didactic Integration Workshop I: LSDs associated with visceromegaly This case-based workshop will help participants learn more about LSDs associated with visceromegaly.
Didactic Integration Workshop II: LSDs associated with a neurodegenerative course In this workshop, clinical cases will be used to educate participants on LSDs associated with a neurodegenerative course.
Didactic Integration Workshop III: LSDs associated with pain This workshop will use clinical cases to provide an overview of LSDs associated with pain.
Didactic Integration Workshop IV: LSDs associated with coarse-appearing facies In this workshop, LSDs associated with coarse-appearing facies will be discussed using clinical cases.
Didactic Integration Workshop V: Metabolic disorders: A radiological review This case-based workshop will describe the radiological features of metabolic disorders.
Diagnosis and Management Workshop I: Therapy of LSDs In this case-based workshop, participants will learn about enzyme replacement therapy, alternative therapies, and supportive therapy for LSDs.
SESSION V: Peroxisomal Diseases and Clinical Approach Sessions
Didactic Session I: Disorders of peroxisomal biogenesis This session will describe the clinical and biochemical phenotypes of disorders of peroxisomal biogenesis, with a focus on disease recognition and diagnosis.
Didactic Session II: X-linked adrenoleukodystrophy, rhizomelic chondrodysplasia punctata, Refsum disease In this lecture, participants will learn more about these specific peroxisomal disorders.
Didactic Integration Workshop I: Laboratory diagnosis of peroxisomal disease This case-based workshop will integrate the principles from the didactic sessions and apply them to a clinical case (or cases) on laboratory diagnosis of peroxisomal disease.
Management Workshop I: Peroxisomal diseases (x-ALD) In this case-based workshop, participants will learn more about the management of peroxisomal disease through clinical cases.
Didactic Integration Workshop II: Metabolic disorders associated with dysmorphic features This workshop will help participants learn more about metabolic disorders associated with dysmorphic features through a case-based approach.
Didactic Integration Workshop III: Metabolic laboratory abnormalities In this workshop, clinical cases will be used to review metabolic laboratory abnormalities in a wide range of inborn errors.
Didactic Integration Workshop IV: Evaluation of an abnormal newborn screening result This case-based workshop will assist participants in the evaluation of abnormal newborn screening results, including amino acid markers, organic acid markers, fatty acid oxidation defect markers, and galactosemia.
Course Evaluation
Course Evaluation Participants will have the opportunity to provide feedback on the course during this evaluation session.
Post-Course Self Evaluation Participants will complete a self-evaluation to determine whether they have met their learning objectives for the course.