N acetyl glutamate synthetase deficiency

Introduction: N acetyl glutamate synthetase deficiency

Description of N acetyl glutamate synthetase deficiency

N acetyl glutamate synthetase deficiency (medical condition): A rare inherited urea cycle disorder where a lack of a certain enzyme (N-acetyl glutamate synthetase) results in accumulation of ammonia in the blood as it can't be broken down and removed through the urine.

See also:

N-acetyl glutamate synthetase deficiency:
  »Introduction: N-acetyl glutamate synthetase deficiency
  »Symptoms of N-acetyl glutamate synthetase deficiency

N acetyl glutamate synthetase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for N acetyl glutamate synthetase deficiency:

• Glutamate synthetase
• Glutamate
• Synthetase
• Deficiency

N acetyl glutamate synthetase deficiency: Rare Disease

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

N acetyl glutamate 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 N acetyl glutamate synthetase deficiency, or a subtype of N acetyl glutamate 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 N acetyl glutamate synthetase deficiency as a "rare disease".

Source - Orphanet

N acetyl glutamate synthetase deficiency as a Disease

N acetyl glutamate synthetase deficiency (medical condition): See N-acetyl glutamate synthetase deficiency (disease information).
  »Introduction: N-acetyl glutamate synthetase deficiency
  »Symptoms of N-acetyl glutamate synthetase deficiency

More information on medical condition: N-acetyl glutamate synthetase deficiency:

• Information about N-acetyl glutamate synthetase deficiency
• Basic Summary for N-acetyl glutamate synthetase deficiency
• Symptoms of N-acetyl glutamate synthetase deficiency
• Complications of N-acetyl glutamate synthetase deficiency

N acetyl glutamate synthetase deficiency: Related Disease Topics

These medical disease topics may be related to N acetyl glutamate synthetase deficiency:

• autosomal recessive urea cycle disorder
• lethargy
• vomiting
• deep coma
• mental retardation

Terms associated with N acetyl glutamate synthetase deficiency:

Terms Similar to N acetyl glutamate synthetase deficiency:

• Hyperammonaemia type 3

Source: Diseases Database

• Hyperammonemia NAGS
• Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
• NAG synthetase deficiency
• NAGS deficiency

Source - NIH

The following terms can be used for N acetyl glutamate synthetase deficiency

• inborn urea cycle disorder

Source: CRISP

External links related to: N acetyl glutamate synthetase deficiency

• OMIM - ASPARTYLGLUCOSAMINURIA
• OMIM - N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
• eMedicine - N-Acetylglutamate Synthetase Deficiency : Article by Karl S Roth, MD
• GeneReviews: Urea Cycle Disorders Overview

Source: Diseases Database

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

Tyloma

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