Autosomal Recessive Diseases for USMLE and COMLEX

Introduction

• Focus on high-yield autosomal recessive diseases frequently tested in exams.
• Understanding inheritance is crucial for exam questions.
• Recommended to learn these diseases first before adding more.

List of Key Autosomal Recessive Diseases

1. Alpha 1-Antitrypsin Deficiency
2. Beta Thalassemia
3. Phenylketonuria (PKU)
   • Notable for a musty odor.
4. Hemochromatosis
   • Iron overload.
5. Wilson's Disease
   • Copper accumulation.
6. Bernard Soulier Syndrome
7. Hartnup Disease
8. Glanzmann Thrombasthenia
9. Fanconi Anemia

Memorization Technique

• Learn the diseases through a song to the tune of "Happy Birthday."
• Lyrics of the Song: "Alpha beta pu iron copper burn su hearten of glands min Fanconi AR yes it's true."

Breakdown of Song Lyrics

• Alpha: Alpha 1-Antitrypsin Deficiency
• Beta: Beta Thalassemia
• Pu: PKU (Phenylketonuria)
• Iron: Hemochromatosis
• Copper: Wilson's Disease
• Burn Su: Bernard Soulier Syndrome
• Heart Enough: Hartnup Disease
• Glans Min: Glanzmann Thrombasthenia
• Fanconi: Fanconi Anemia
• AR: Autosomal Recessive

Conclusion

• Using the song makes memorization straightforward.
• Finish the song with "AR" to remember it's about autosomal recessive diseases.
• Other songs are available for different patterns like X-linked recessive and autosomal dominant diseases.
• Repetition of the song will aid in retention.