As a family we are grateful for this opportunity to tell our story and hope that we can and will help other families with arginase deficiency and urea cycle
For UCD cases, since the maternal urea cycle
metabolizes waste nitrogen that comes from the fetus, there are no complaints or signs during pregnancy and the first few days after birth.
In this case, the patient presented with vague symptoms and a critical (>187 [micro]g/dL or >110 [micro]mol/L) plasma ammonia which raised suspicion for a urea cycle
In the study, patients were randomized to treatment with sodium phenylbutyrate, which is an approved treatment for urea cycle
disorders, or glycerol phenylbutyrate for 2 weeks.
He was diagnosed with idiopathic proximal urea cycle
Alternative pathway therapy for urea cycle
disorders:twenty years later.
The treatment option for urea cycle
defects -- which includes severe and life-threatening metabolic disorders of the liver -- is currently undergoing clinical examination.
Billy was born with urea cycle
defect, a rare condition which kills male sufferers because it means the body cannot break down proteins normally.
Results from the metabolic screen indicate argininosuccinic aciduria, a urea cycle
ORNITHINE Transcarbamylase Deficiency is part of a urea cycle
This report provides information on the therapeutic development for Urea Cycle
Disorders, complete with latest updates, and special features on late-stage and discontinued projects.
Arginase-1 is part of the pathway called the urea cycle
which takes the excess nitrogen that we have in our bodies as part of a normal diet and converts it into a harmless and easily eliminated compound call urea.