If you are one in 1.3 million people, you might be born with a mutation in your CPS1 gene, causing you to have carbamoyl phosphate synthetase 1 deficiency or CPS1D.
CPS1D might sound like something right out of a Star Wars movie… it’s not.
It’s a disruption in the urea cycle that results in hyperammonemia, meaning ammonia accumulates in the blood.
Babies born with this deficiency show symptoms including:
- lethargy
- vomiting
- coma
These babies appear to be healthy at birth, and then start manifesting the symptoms of the metabolic disorder. Early treatment is essential to survival, but in severe cases, the prognosis is very poor.
Patients with CPS1D must adhere to a life-long diet that is low in protein to avoid catabolic stress. Parents are urged to undergo genetic counseling before having more children.
If your child has been diagnosed with this extremely rare autosomal storage disorder, there is support available.
Children Living with Inherited Metabolic Diseases, or CLIMB, in the United Kingdom, seeks to improve the lives of thousands of kids with metabolic diseases, and is a great resource for information.
They also work to raise awareness, because let’s face it… if you or your child is one in 1.3 million, there’s not a lot of awareness about CPS1D, and probably not a lot of company in the meeting room.
