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What is N-acetyl glutamate synthetase deficiency?

What is N-acetyl glutamate synthetase deficiency?

  • 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.

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

N-acetyl glutamate synthetase deficiency: Introduction

Types of N-acetyl glutamate synthetase deficiency:

Broader types of N-acetyl glutamate synthetase deficiency:

How many people get N-acetyl glutamate synthetase deficiency?

Prevalance of N-acetyl glutamate synthetase deficiency: only a few cases of N-acetylglutamate synthase deficiency have been reported worldwide, Genetics Home Reference website

How serious is N-acetyl glutamate synthetase deficiency?

Complications of N-acetyl glutamate synthetase deficiency: see complications of N-acetyl glutamate synthetase deficiency

What causes N-acetyl glutamate synthetase deficiency?

Causes of N-acetyl glutamate synthetase deficiency: see causes of N-acetyl glutamate synthetase deficiency

What are the symptoms of N-acetyl glutamate synthetase deficiency?

Symptoms of N-acetyl glutamate synthetase deficiency: see symptoms of N-acetyl glutamate synthetase deficiency

Complications of N-acetyl glutamate synthetase deficiency: see complications of N-acetyl glutamate synthetase deficiency

Onset of N-acetyl glutamate synthetase deficiency: within days of birth

Can anyone else get N-acetyl glutamate synthetase deficiency?

More information: see contagiousness of N-acetyl glutamate synthetase deficiency
Inheritance: see inheritance of N-acetyl glutamate synthetase deficiency

N-acetyl glutamate synthetase deficiency: Testing

Misdiagnosis: see misdiagnosis and N-acetyl glutamate synthetase deficiency.

How is it treated?

Doctors and Medical Specialists for N-acetyl glutamate synthetase deficiency: Medical Geneticist, Hepatologist ; see also doctors and medical specialists for N-acetyl glutamate synthetase deficiency.
Treatments for N-acetyl glutamate synthetase deficiency: see treatments for N-acetyl glutamate synthetase deficiency

Name and Aliases of N-acetyl glutamate synthetase deficiency

Main name of condition: N-acetyl glutamate synthetase deficiency

Other names or spellings for N-acetyl glutamate synthetase deficiency:

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

Hyperammonaemia type 3 Source - Diseases Database

Hyperammonemia NAGS, Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency, NAG synthetase deficiency, NAGS deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

N-acetyl glutamate synthetase deficiency: Related Conditions

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

 

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