The company added that the funds will be used to support the pre-clinical development of an exosome-based therapy to treat argininosuccinic aciduria
(ASA) in collaboration with University College London (UCL).
In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria
(two cases) are presented in terms of clinical course and treatment responses.
However, extracellular arginine levels can affect NO production even though the intracellular levels of arginine are saturated.In humans, the natural history of argininosuccinic aciduria
caused by deficiency of ASL shows systemic and chronic features that reflect in part global dysregulation of NO homeostasis.
Michelle Atkinson and her two children Max, 19 and Melissa, |21, who suffer from the rare condition Argininosuccinic Aciduria
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria
. J Inherit Metab Dis 2005; 28: 877-83.
Jade suffers from Argininosuccinic Aciduria
, which means she could die if she eats too much protein.
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria
. J Pediatr.
(ASAuria; OMIM 207900) is an autosomal recessive inborn error of the urea cycle caused by deficiency of the enzyme argininosuccinate lyase (ASL; EC 220.127.116.11) (1).
FINAL DIAGNOSIS: Argininosuccinic aciduria
(urea cycle defect).
Epidemiology, symptoms, and treatments are the same as those for argininosuccinic aciduria
(e) ASA, argininosuccinic aciduria
; C12, dodecanoylcarnitine; C18:10H, hydroxyoctadecenoylcarnitine; C180H, hydroxyoctadecanoylcarnitine; IVA, isovaleric acidemia; 3-MCC, 3-methylcrotonyl-CoA carboxylase; HMG, 3-hydroxy-3-methylglutaryl-CoA lyase.
Thus, ORA aciduria is observed in patients with ornithine carbamoylasetransferase deficiency (OCTD), an X-linked disorder, and could reveal heterozygosity after a protein load, and in citrullinemia, argininosuccinic aciduria
, and argininemia (2, 3).