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Genetics & Metabolic GI Disease

This module builds a systematic framework for recognizing, investigating, and counseling families about monogenic and metabolic gastrointestinal disorders, from congenital diarrheal disorders and very-early-onset IBD to glycogen storage diseases and hereditary polyposis syndromes. Given the higher consanguinity rate in Saudi Arabia and the Gulf, particular emphasis is placed on autosomal recessive congenital GI disease, genetic counseling, and practical consanguinity-based recurrence-risk assessment.

Lessons

Hours

CME

Questions

Learning Objectives

Build a structured diagnostic approach to congenital diarrheal disorders, including stool electrolyte interpretation and the role of intestinal biopsy and genetic testing.

Recognize the red flags of monogenic (very early onset) inflammatory bowel disease and select the appropriate genetic and immunologic work-up.

Describe the hepatic and gastrointestinal manifestations and dietary management of glycogen storage diseases, galactosemia, and hereditary fructose intolerance.

Apply a genetic-counseling framework — including cascade family screening and carrier testing — to Wilson disease and alpha-1-antitrypsin deficiency.

Outline the genetics, cancer risk, and surveillance protocols for Peutz-Jeghers syndrome, familial adenomatous polyposis, and juvenile polyposis syndrome.

Perform a consanguinity-based recurrence-risk assessment and know when and how to refer a Saudi/GCC family for genetic testing and counseling.

Genetics & Metabolic GI Disease

Lessons

Hours

CME

Questions

Learning Objectives

Build a structured diagnostic approach to congenital diarrheal disorders, including stool electrolyte interpretation and the role of intestinal biopsy and genetic testing.

Recognize the red flags of monogenic (very early onset) inflammatory bowel disease and select the appropriate genetic and immunologic work-up.

Describe the hepatic and gastrointestinal manifestations and dietary management of glycogen storage diseases, galactosemia, and hereditary fructose intolerance.

Apply a genetic-counseling framework — including cascade family screening and carrier testing — to Wilson disease and alpha-1-antitrypsin deficiency.

Outline the genetics, cancer risk, and surveillance protocols for Peutz-Jeghers syndrome, familial adenomatous polyposis, and juvenile polyposis syndrome.

Perform a consanguinity-based recurrence-risk assessment and know when and how to refer a Saudi/GCC family for genetic testing and counseling.

Genetics & Metabolic GI Disease

Learning Objectives

Approach to the Child with Suspected Genetic/Metabolic GI Disease

Congenital Diarrheal Disorders I: Microvillus Inclusion Disease and Tufting Enteropathy

Congenital Diarrheal Disorders II: Electrolyte Transport Defects and Diagnostic Approach

Monogenic Very-Early-Onset IBD: IL-10 and IL-10 Receptor Deficiency

Monogenic IBD II: XIAP Deficiency and Other Primary Immunodeficiencies

Glycogen Storage Diseases: Types I-IV

Wilson Disease: Genetics and Family Screening

Alpha-1-Antitrypsin Deficiency: Genotype-Phenotype and Family Screening

Galactosemia and Hereditary Fructose Intolerance

Hereditary Polyposis Syndromes: Genetics, Surveillance, and Cancer Risk

IPEX Syndrome and Congenital Enteropathies with Immune Dysregulation

Mitochondrial GI Disease and Integrating the Genetic Work-Up

Genetics & Metabolic GI Disease

Learning Objectives

Approach to the Child with Suspected Genetic/Metabolic GI Disease

Congenital Diarrheal Disorders I: Microvillus Inclusion Disease and Tufting Enteropathy

Congenital Diarrheal Disorders II: Electrolyte Transport Defects and Diagnostic Approach

Monogenic Very-Early-Onset IBD: IL-10 and IL-10 Receptor Deficiency

Monogenic IBD II: XIAP Deficiency and Other Primary Immunodeficiencies

Glycogen Storage Diseases: Types I-IV

Wilson Disease: Genetics and Family Screening

Alpha-1-Antitrypsin Deficiency: Genotype-Phenotype and Family Screening

Galactosemia and Hereditary Fructose Intolerance

Hereditary Polyposis Syndromes: Genetics, Surveillance, and Cancer Risk

IPEX Syndrome and Congenital Enteropathies with Immune Dysregulation

Mitochondrial GI Disease and Integrating the Genetic Work-Up