Welcome - Urea Cycle Disorders (UCD) Community

WHAT IS UREA CYCLE DISORDERS (UCD) ?

A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream.

The six urea cycle disorders are:

Arginase Deficiency (AG)
Argininosuccinic Aciduria (ASA)
Carbamyl Phosphate Synthetase Deficiency (CPS)
Citrullinaemia
N-Acetylglutamate Synthetase Deficiency (NAGS)
Ornithine Transcarbamylase Deficiency (OTC)

UREA CYCLE DISORDERS (UCD) RESOURCES

LATEST MEMBER STORIES

Sarah’s Story - OTC

BY RARECONNECT TEAM PUBLISHED ABOUT 1 MONTH AGO
NO COMMENT

Growing up with this condition wasn’t always easy as I was often ill and had to be admitted into hospital, I had to take medication and always watc...

Olivia’s Story – Argininosuccinic Aciduria

BY EMMAP PUBLISHED ABOUT 1 MONTH AGO
NO COMMENT

The next day Olivia continued to feed well but I noticed she was very quiet and sleepy with a tinge of yellow so we called the hospital and went in...

PARTNERS AND PATIENT GROUPS

RareConnect is a patient-led initiative. Patient organisations partner with EURORDIS, itself an international patient organisation, to create communities and provide moderators from within their network. The following patient groups are official partners of this community.