Carbamoyl Phosphate Synthetase 1 Deficiency

Common Name(s)

Carbamoyl Phosphate Synthetase 1 Deficiency, Carbamyl Phosphate Synthetase Deficiency

Carbamoyl phosphate synthetase I deficiency (CPS) is a rare genetic condition. CPS results from a mutation (error) in the CPS1 gene. People with CPS cannot remove ammonia from their bodies. Ammonia is produced during the break down of proteins. Normally, our liver changes ammonia into less harmful urea which we then get rid of in our urine. This process is called the urea cycle and it depends on a number of special proteins (enzymes). If one of the enzymes needed is missing or not working correctly, the ammonia is not changed into urea and cannot be excreted in our urine. In CPS, the enzyme carbamoyl phosphate synthetase (CPS) is not working causing ammonia to build up in the bloodstream. Ammonia is very toxic. The brain is very sensitive to ammonia.

Signs of the most common form of CPS usually show shortly after birth. In the second form signs may begin to show during childhood or adulthood. Symptoms of CPS include poor appetite, vomiting, tiredness, seizures, trouble breathing, uncontrolled body movements, or delayed growth. Lack of treatment may lead to a coma. Treatment may include a specific diet to limit proteins as well as special medication. Special foods or formulas may also be needed. Lifelong management is needed to avoid delayed development and intellectual disabilities.

CPS is autosomal recessive. Early diagnosis has shown to be effective in improving the health of individuals with CPS Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor to determine which treatment options are best for your child. Support groups are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carbamoyl Phosphate Synthetase 1 Deficiency" for support, advocacy or research.

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leads the search for a cure. Internationally recognized, NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF is the driving force stimulating and supporting research for new treatments, improved outcomes, and a Cure. NUCDF efforts include educating UCD patients, families and medical professionals on diagnosis, treatment and management, and providing guidance, resources, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research.

Last Updated: 11 Jun 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carbamoyl Phosphate Synthetase 1 Deficiency" for support, advocacy or research.

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

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National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leads the search for a cure. Internationally recognized, NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF is the driving force stimulating and supporting research for new treatments, improved outcomes, and a Cure. NUCDF efforts include educating UCD patients, families and medical professionals on diagnosis, treatment and management, and providing guidance, resources, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research.

http://www.nucdf.org

Last Updated: 11 Jun 2015

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General Support Organizations

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General Resources

UCD International Patient Registry

Join other UCD families in the only registry in existence designed to accelerate new research specifically for UCDs. Patients & caregivers self-report their own unique experiences with UCD to help improve care and find new treatments.

Updated 18 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Carbamoyl Phosphate Synthetase 1 Deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
 

Author(s): Rihwa Choi, Hyung Doo Park, Mina Yang, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yun Sil Chang, Won Soon Park

Journal: Ann Lab Med. 2017 Jan;37(1):58-62.

 

Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient ...

Last Updated: 11 Nov 2016

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Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
 

Author(s): Timothy R Bates, Barry D Lewis, John R Burnett, Kenji So, Andrew Mitchell, Luc Delriviere, Gary P Jeffrey

Journal: Liver Transpl.. 2011 Dec;17(12):1481-4.

 

Urea cycle disorders (UCDs) are rare causes of hyperammonemic encephalopathy in adults. Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition ...

Last Updated: 30 Nov 2011

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[Late-onset presentation of carbamoyl phosphate synthetase 1 deficiency in a 6-year-old boy].
 

Author(s): L Gómez-López, R Artuch, M A Vilaseca, P Briones-Godino, U Finckh, M Pineda

Journal: Rev Neurol. ;47(9):500-1.

 

Last Updated: 5 Nov 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Carbamoyl Phosphate Synthetase 1 Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia, Type I and/or Type II; Methylmalonic Acidemia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Ornithine Carbamoyltransferase Deficiency

 

Last Updated: 4 Apr 2017

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Manipulating the Gut Microbiome Study
 

Status: Recruiting

Condition Summary: Urea Cycle Disorder

 

Last Updated: 7 Jun 2017

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