Ornithine carbamoyltransferase deficiency

Introduction: Ornithine carbamoyltransferase deficiency

Description of Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency (medical condition): A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.

See also:

Ornithine transcarbamylase (OTC) Deficiency:
  »Introduction: Ornithine transcarbamylase (OTC) Deficiency
  »Symptoms of Ornithine transcarbamylase (OTC) Deficiency
  »Treatments for Ornithine transcarbamylase (OTC) Deficiency

Ornithine carbamoyltransferase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Ornithine carbamoyltransferase deficiency:

• Ornithine carbamoyltransferase
• Ornithine
• Carbamoyltransferase
• Deficiency

Ornithine carbamoyltransferase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Ornithine carbamoyltransferase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Ornithine carbamoyltransferase deficiency, or a subtype of Ornithine carbamoyltransferase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Ornithine carbamoyltransferase deficiency as a "rare disease".

Source - Orphanet

Ornithine carbamoyltransferase deficiency as a Disease

Ornithine carbamoyltransferase deficiency: Another name for Ornithine transcarbamylase (OTC) Deficiency (or close medical condition association).
  »Introduction: Ornithine transcarbamylase (OTC) Deficiency
  »Symptoms of Ornithine transcarbamylase (OTC) Deficiency
  »Treatments for Ornithine transcarbamylase (OTC) Deficiency

Symptoms of Ornithine carbamoyltransferase deficiency (Ornithine transcarbamylase (OTC) Deficiency)

Some of the symptoms of Ornithine carbamoyltransferase deficiency incude:

• Failure to thrive
• Elevated blood ammonia level
• Vomiting
• Headache
• Confusion

See full list of 20 symptoms of Ornithine carbamoyltransferase deficiency (Ornithine transcarbamylase (OTC) Deficiency)

Treatments for Ornithine carbamoyltransferase deficiency (Ornithine transcarbamylase (OTC) Deficiency)

Treatments for Ornithine carbamoyltransferase deficiency (Ornithine transcarbamylase (OTC) Deficiency) include:

• Treatment generally involves sticking to a low protein diet
• High ammonia levels in the blood can be managed by using intravenous sodium benzoate, sodium phenylacetate and arginine
• Severe cases may require hemodialysis to remove toxins from the blood
• Oral sodium phenylbutyrate and arginine can be used as a long-term therapy
• Regular blood tests are needed to monitor ammonia and amino acid levels

Read more about treatments for Ornithine carbamoyltransferase deficiency

Treatment of Ornithine carbamoyltransferase deficiency: For more treatment information about Ornithine carbamoyltransferase deficiency, see treatment of Ornithine transcarbamylase (OTC) Deficiency (Ornithine carbamoyltransferase deficiency)

Ornithine carbamoyltransferase deficiency: Related Disease Topics

These medical disease topics may be related to Ornithine carbamoyltransferase deficiency:

• urea cycle disorders
• ornithine transcarbamylase
• hyperammonemia
• encephalitis
• mental retardation
• anorexia
• starvation
• developmental delay

Terms associated with Ornithine carbamoyltransferase deficiency:

Terms Similar to Ornithine carbamoyltransferase deficiency:

• Ornithine transcarbamylase deficiency, hyperammonemia due to
• OTC deficiency

Source - NIH

The following terms can be used for Ornithine carbamoyltransferase deficiency

• ornithine carbamoyl phosphate deficiency

Source: CRISP

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