1. Alpha-1 Antitrypsin Deficiency (AATD) By Me

2. History First case reported in Sweden. Women and men are affected in equal numbers Common in Caucasians and Northern Europeans Name comes from a deficiency of the serum antiprotease, known as AAT Most common cause of liver disease in children

3. Symptoms Shortness of breath. Severe liver disease (cirrhosis) Weight loss Wheezing

4. Inheritance Genetic defect where Alpha-1 antitrypsin(AAT) also known as a “Protease Inhibitor” is in short supply. Inherited in an autosomal codominant pattern.

5. Locus Occurs in the liver. Makes defective versions of AAT and causes the proteins in the liver to mishape, polymerize, collect within the liver cell. Mutations caused in the SERPINA1 gene on chromosome 14

6. Linkage There is no linkage to any other genes.

7. Frequency Affects about 1 in 1500 to 3500 people with European background. Children must inherit one abnormal gene from a parent to get the disease.

8. Effected Groups Common in European ancestry Uncommon in Asian heritage

9. Age of Onset Between ages 20 and 50. Can be also seen in children

10. Prognosis Some of the people with this will not have liver of lung disease but the emphysema and cirrhosis can be fatal.

11. Treatments Replacing AAT protein that is missing. Inserted through the vein each week. Smoking is major to avoid Treatments for emphysema and cirrhosis are used

12. Recent Progress The Alpha-1 Project is a foundation towards eliminating the effects and curing the disease.

13. Famous Cases Rumored that Micheal Jackson might have had this.

14. Cites http://www.spiderspun.net/faqs001.htm http://health.nytimes.com/health/guides/dise ase/alpha-1-antitrypsin-deficiency/ http://health.nytimes.com/health/guides/dise ase/alpha-1-antitrypsin-deficiency/ http://ghr.nlm.nih.gov/condition/alpha-1- antitrypsin-deficiency http://ghr.nlm.nih.gov/condition/alpha-1- antitrypsin-deficiency http://learn.genetics.utah.edu/content/disord ers/whataregd/a1ad/ http://learn.genetics.utah.edu/content/disord ers/whataregd/a1ad/ http://www.thealpha- 1project.com/ProgressReports.aspx