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N-acetyl glutamate synthetase deficiency

N-acetyl glutamate synthetase deficiency: Introduction

N-acetyl glutamate synthetase deficiency: 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. More detailed information about the symptoms, causes, and treatments of N-acetyl glutamate synthetase deficiency is available below.

Symptoms of N-acetyl glutamate synthetase deficiency

Wrongly Diagnosed with N-acetyl glutamate synthetase deficiency?

N-acetyl glutamate synthetase deficiency: Deaths

Read more about Deaths and N-acetyl glutamate synthetase deficiency.

N-acetyl glutamate synthetase deficiency: Complications

Review possible medical complications related to N-acetyl glutamate synthetase deficiency:

Causes of N-acetyl glutamate synthetase deficiency

Read more about causes of N-acetyl glutamate synthetase deficiency.

Disease Topics Related To N-acetyl glutamate synthetase deficiency

Research the causes of these diseases that are similar to, or related to, N-acetyl glutamate synthetase deficiency:

Misdiagnosis and N-acetyl glutamate synthetase deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as ...read more »

Statistics for N-acetyl glutamate synthetase deficiency

N-acetyl glutamate synthetase deficiency: Broader Related Topics

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Definitions of N-acetyl glutamate synthetase deficiency:

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, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list N-acetyl glutamate synthetase deficiency as a "rare disease".
Source - Orphanet

Related N-acetyl glutamate synthetase deficiency Info

Videos about N-acetyl glutamate synthetase deficiency

 

More information about N-acetyl glutamate synthetase deficiency

  1. N-acetyl glutamate synthetase deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Deaths
  7. Complications
 

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