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.
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 22.214.171.124) (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).