Lecture 28: Porphyria

Manisha Balwani MD

Presentation Date:

April 17, 2025

Manisha Balwani, MD, MS, FACMG
Professor and Chief
Division of Medical Genetics and Genomics
Department of Genetics and Genomic Sciences
Icahn School of Medicine at Mount Sinai
manisha.balwani@mssm.edu

The Porphyrias
> Rare metabolic disorders of the heme-biosynthetic pathway
> Classified either based on the primary site of the enzymatic defect or clinical presentation

Slide Deck

Lecture 28: Porphyria

Manisha Balwani MD

Presentation Date:

April 17, 2025

The Porphyrias> Rare metabolic disorders of the heme-biosynthetic pathway> Classified either based on the primary site of the enzymatic defect or clinical presentation

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The Porphyrias
> Rare metabolic disorders of the heme-biosynthetic pathway
> Classified either based on the primary site of the enzymatic defect or clinical presentation