Carbamoyl phosphate synthetase I deficiency

Carbamoyl Phosphate Synthetase I Deficiency (CPS1 deficiency) is a rare genetic disorder that affects the urea cycle, a series of biochemical processes in the liver responsible for removing ammonia from the blood and converting it into urea, which is then excreted in the urine. CPS1 deficiency is caused by mutations in the CPS1 gene, leading to a deficiency or dysfunction of the enzyme carbamoyl phosphate synthetase I. This enzyme plays a critical role in the first step of the urea cycle, and its deficiency leads to an accumulation of ammonia and other toxic substances in the blood, which can cause serious health problems, including brain damage, coma, and if untreated, death.

Symptoms

The symptoms of CPS1 deficiency typically appear in the first few days of life and may include:

• Lethargy
• Poor feeding
• Vomiting
• Seizures
• Hypothermia (abnormally low body temperature)
• Respiratory distress
• Coma

In less severe cases, symptoms may appear later in childhood or adulthood and may be triggered by episodes of high protein intake, illness, or other stressors.

Diagnosis

Diagnosis of CPS1 deficiency involves a combination of clinical evaluation, laboratory testing, and genetic testing. Laboratory tests may show elevated levels of ammonia in the blood, while genetic testing can identify mutations in the CPS1 gene.

Treatment

Treatment for CPS1 deficiency is aimed at reducing ammonia levels in the blood and may include:

• A low-protein diet to reduce the amount of ammonia produced in the body
• Medications to remove ammonia from the body, such as sodium benzoate or sodium phenylbutyrate
• Liver transplant in severe cases

Prognosis

The prognosis for individuals with CPS1 deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and treatment are critical for preventing serious complications.

Epidemiology

CPS1 deficiency is a very rare disorder, with an estimated incidence of 1 in 800,000 to 1 in 1,000,000 live births worldwide.

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