N-Acetylglutamate Synthetase Deficiency (NAGS)

What is N-acetylglutamate synthetase deficiency (NAGS)?

N-acetylglutamate synthetase deficiency (NAGS) is a genetic disorder where a person either partially or completely lacks the enzyme n-acetylglutamate synthetase, which causes ammonia to accumulate in the blood. It is extremely rare, with only a few cases reported worldwide. When proteins break down, ammonia forms, and if a person’s levels are too high, this can be fatal. The nervous system is especially affected by high levels of ammonia.

How is NAGS diagnosed?

NAGS can be diagnosed within a few days of an infant’s birth. Babies with NAGS are listless, prone to seizures, don’t want to eat, and have body temperature issues. Complications can include developmental delays as the child grows, and intellectual disabilities. Some people don’t develop NAGS until later in life, and may experience sudden bouts of ammonia toxicity. To make it even harder to diagnose, symptoms vary from person to person.

What treatment options are available for NAGS?

Treatments for NAGS are centered on removing ammonia and nitrogen from the bloodstream. There are several drugs on the market that are prescribed for NAGS. One such drug is sodium phenylbutyrate (Buphenyl®) which has been approved by the FDA.

Where can I find more information on N-acetylglutamate synthetase deficiency (NAGS)?

• U.S. National Library of Medicine
• NIH
• National Organization for Rare Disorders (NORD)