Wilson’s Disease (Hepatolenticular Degeneration)
Key Points Autosomal recessive disorder of copper metabolism leading to toxic copper accumulation. Presents with hepatic, neurological, and psychiatric symptoms,…
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Your Guide to Living Well with Leukemia: Prevention, Self-Care, and Support
Introduction Being diagnosed with acute leukemia can be overwhelming. Beyond medical treatment, understanding how to care for your body, reduce…
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Acute Peritonitis: Causes, Diagnosis, and Management
Key Points Acute peritonitis is inflammation of the peritoneal lining, most often caused by microbial contamination from a perforated viscus…
Crohn’s Disease: Pathogenesis, Clinical Features, and Management
Key Points Crohn's disease (CD) is a chronic, relapsing inflammatory bowel disease characterized by granulomatous inflammation that can affect any…
Ulcerative Colitis: Pathogenesis, Classification, and Contemporary Management
Key Points Chronic, relapsing-remitting inflammatory bowel disease confined to the colonic mucosa, starting in the rectum. Montreal classification assesses extent…
Ulcerative Colitis: Pathogenesis, Diagnosis, and Management
Key Points Chronic, idiopathic inflammatory bowel disease limited to the colon and rectum, marked by continuous mucosal ulceration. Presents with…
Acute Appendicitis
Key Points Acute inflammation of the vermiform appendix, a common surgical emergency. Peak incidence in adolescents and young adults; lifetime…
Hereditary Tyrosinemia Type I (Hypertyrosinemia)
Key Points Rare autosomal recessive disorder due to fumarylacetoacetate hydrolase (FAH) deficiency (Hereditary Tyrosinemia Type I). Accumulation of toxic metabolites…
Galactosemia (Classic Galactosemia)
Key Points Inherited deficiency of galactose-1-phosphate uridyltransferase (GALT), leading to toxic accumulation of galactose-1-phosphate and galactitol. Manifests in the neonatal…
Glycogen Storage Diseases: Overview and Type I (Von Gierke Disease)
Key Points Glycogen storage diseases (GSDs) are inherited enzyme defects in glycogen synthesis or breakdown (Types I–XI). Type I (Von…