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Dictionary » Carbamoyl phosphate synthetase deficiency
 

Carbamoyl phosphate synthetase deficiency

Introduction: Carbamoyl phosphate synthetase deficiency

Description of Carbamoyl phosphate synthetase deficiency

Carbamoyl phosphate synthetase deficiency (medical condition): A very rare inherited urea cycle disorder where the lack of the enzyme...more »

See also:

Carbamoyl-phosphate synthase 1 deficiency:
  »Introduction: Carbamoyl-phosphate synthase 1 deficiency
  »Symptoms of Carbamoyl-phosphate synthase 1 deficiency

Carbamoyl phosphate synthetase deficiency: genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without orotic aciduria, protein intolerance, and neurologic disorders.
Source: CRISP

Carbamoyl phosphate synthetase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Carbamoyl phosphate synthetase deficiency:

Carbamoyl phosphate synthetase deficiency: Rare Disease

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

Carbamoyl phosphate synthetase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Carbamoyl phosphate synthetase deficiency, or a subtype of Carbamoyl phosphate synthetase 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 Carbamoyl phosphate synthetase deficiency as a "rare disease".

Source - Orphanet

Carbamoyl phosphate synthetase deficiency as a Disease

Carbamoyl phosphate synthetase deficiency: Another name for Carbamoyl-phosphate synthase 1 deficiency (or close medical condition association).
  »Introduction: Carbamoyl-phosphate synthase 1 deficiency
  »Symptoms of Carbamoyl-phosphate synthase 1 deficiency

Carbamoyl phosphate synthetase deficiency: Related Diseases

Carbamoyl phosphate synthetase deficiency: Carbamoyl phosphate synthetase deficiency is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Carbamoyl phosphate synthetase deficiency (Carbamoyl-phosphate synthase 1 deficiency)

Some of the symptoms of Carbamoyl phosphate synthetase deficiency incude:

Carbamoyl phosphate synthetase deficiency: Related Disease Topics

These medical disease topics may be related to Carbamoyl phosphate synthetase deficiency:

Terms associated with Carbamoyl phosphate synthetase deficiency:

Terms Similar to Carbamoyl phosphate synthetase deficiency:

Source: Diseases Database

Source - NIH

Broader terms for Carbamoyl phosphate synthetase deficiency

Source - CRISP

The term Carbamoyl phosphate synthetase deficiency can be used for:

Source: CRISP

The description of Carbamoyl phosphate synthetase deficiency may also be used for the following terms:

Source: CRISP

External links related to: Carbamoyl phosphate synthetase deficiency

Source: Diseases Database

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