... stability. Deficiency of arginase leads to accumulation of arginine and related, toxic compounds ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...

... 150 µmol/L depending on the laboratory's reference range) in the severe form but often lower in the ... is absent. Arginine and ornithine concentrations are in the low-to- ...

... of Manifestations Treatment for MELAS is primarily supportive. Arginine therapy. Recommendations for the management of stroke-like episodes in MELAS with arginine have been published. During the acute stroke-like ...

... usually normal in ARG1 deficiency. Plasma concentration of arginine is markedly elevated in ARG1 deficiency. It may ... Lysinuric protein intolerance SLC7A7 AR Hyperammonemia ↑ lysine, ornithine, arginine in the urine Fatty acid oxidation disorders (See ...

... al 2011 , van Karnebeek et al 2012 ]. L-arginine supplementation. L-arginine competitively inhibits lysine transport and can therefore reduce ... lysine-restricted medical diet; in such individuals, L-arginine supplementation has been offered as an alternative method ...

... no role in the treatment of Barth syndrome. Arginine. Because lower plasma arginine levels detected in males with Barth syndrome [ Rigaud ... protein synthesis, it has been proposed that oral arginine supplementation be used. Improvements in ventricular function have ...

... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for an ... alanine-rich domain, arginine-serine-rich domain, and serine-rich domains. Abnormal ...

... et al 2017 ]. Desmopressin (1-deamino-8-D-arginine vasopressin; DDAVP) shortened bleeding time in some individuals ...

... Willebrand factor includes antifibrinolytics and deamino-8-d-arginine vasopressin (DDAVP) . DDAVP should be used with caution ...

... of glucose and, as needed, infusion of supplemental arginine and the ammonia removal drugs sodium benzoate and ... phenylbutyrate to maintain plasma concentrations of ammonia, glutamine, arginine, and essential amino acids within normal range. Note: ...