Inborn urea cycle disorder

Inborn urea cycle disorder: Introduction

Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life. More detailed information about the symptoms, causes, and treatments of Inborn urea cycle disorder is available below.

Symptoms of Inborn urea cycle disorder

• Urea cycle enzyme deficiency
• Mental retardation
• Brain damage
• Coma
• Irritability
• more symptoms...»

See full list of 30 symptoms of Inborn urea cycle disorder

Wrongly Diagnosed with Inborn urea cycle disorder?

• Failure to diagnose Inborn urea cycle disorder
• Undiagnosed: Inborn urea cycle disorder

Inborn urea cycle disorder: Related Patient Stories

• Odd Cycle of Symptoms

Inborn urea cycle disorder: Complications

Review possible medical complications related to Inborn urea cycle disorder:

• Death
• more complications...»

Causes of Inborn urea cycle disorder

Read more about causes of Inborn urea cycle disorder.

Inborn urea cycle disorder: Broader Related Topics

• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions
• more types...»

Types of Inborn urea cycle disorder

User Interactive Forums

Read about other experiences, ask a question about Inborn urea cycle disorder, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

Search Specialists by State and City