Infectious Disorders
Prion diseases
Feb. 09, 2024
MedLink®, LLC
3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.
Ammonia is detoxified through its conversion to urea by the enzymes in the small boxes, whose abbreviations are spelled out below. ASS catalyzes the synthesis of argininosuccinate from citrulline and aspartate. Deficiency of ASS (highlighted red) causes hyperammonemia along with marked accumulation of plasma glutamine and citrulline and decreased plasma arginine concentrations. Urinary orotic acid may be elevated. Deficiency of citrin causes hyperammonemia along with variable accumulation of plasma glutamine and citrulline, but to a lesser degree compared with that of deficiency of ASS. Plasma arginine concentrations are normal or slightly elevated. NAGS, N-acetylglutamate synthase; CPS1, Carbamoyl phosphate synthetase 1; OTC, Ornithine transcarbamylase; ASS Argininosuccinate synthetase; ASL, Argininosuccinate lyase; ARG1, Arginase 1. (Adapted from: Zschocke and Hoffmann. Vademecum Metabolicum. 3rd revised edition. 2011. Contributed by Dr. Georg F Hoffmann.)