ASL Deficiency: An introduction

ASL Deficiency, or Argininosuccinic acid lyase deficiency, is a rare condition* which is the result of the deficiency of an enzyme called Argininosuccininate lyase.

(protein pathway with and without presence of ASL)

Argininosuccinate lyase is one of several enzymes found in the urea cycle, a series of chemical reactions that occur in the bodies of organisms which work to remove ammonia. The deficiency in Argininosuccinate lyase means that the body either does not produce Argininosuccinate lyase or produces a damaged enzyme and is thus incapable of removing ammonia effectively, if at all. This will eventually result in a build-up of ammonia which is highly toxic to the body and can have some dire results on the body which will be elaborated on in later posts.

This condition is known by several different names:

•      Argininosuccinate lyase deficiency
•      Argininosuccinic acidemia
•      Argininosuccinicaciduria
•      Argininosuccinyl-CoA lyase deficiency
•      Arginosuccinase deficiency
•      ASA
•      ASAuria
•      ASL deficiency

*1 in 70, 000 are born with this condition

http://www.newbornscreening.info/Parents/aminoaciddisorders/ASAL.html#6

http://en.wikipedia.org/wiki/Argininosuccinic_aciduria

http://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria