Urea Cycle Disorders (UCD)
UCDs are caused by a deficiency of one of the enzymes in the urea cycle, which is responsible for the removal of ammonia, a potent neurotoxin, from the body. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea, which is excreted in the urine. In UCDs, the nitrogen removal is blocked and it accumulates in the form of ammonia. Left untreated, UCDs can cause dangerously increased levels of ammonia in the bloodstream (hyperammonemia) resulting in brain damage, coma and, if untreated, death.
Adrenal Cortical Carcinoma (ACC)
Adrenal cortical carcinoma, or cancer of the adrenal cortex, is a rare disease caused by the growth of cancer cells in the adrenal cortex, the outer layer of the adrenal gland.
The adrenal cortex produces hormones that regulate essential functions in the body including response to stress, control of blood pressure and metabolism.
A malignant tumor of the adrenal cortex may be functional (makes more hormones than normal) or non-functional (does not make more hormones than normal). About 50-60% of adrenocortical tumors are functioning.1
A non-functional adrenal cortical carcinoma may not cause symptoms in the early stages.
A functioning adrenal cortical carcinoma increases the production of some hormones. There are many signs and symptoms of functioning adrenocaortical carcinoma, depending on which hormone(s) is/are involved.
1 European Society of Endocrinology Clinical Practice Guidelines on the management of adrenocortical carcinoma in adults, in collaboration with the European Network for the Study of Adrenal Tumors. Fassnacht 2018