Meyahealth
HomeGeneticsGeneNAGLU gene
Back to Gene
NAGLU gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NAGLU gene

The NAGLU gene provides instructions for an enzyme that breaks down glycosaminoglycans, which are long chains of sugar molecules, within lysosomes.

Normal Function

The NAGLU gene provides instructions for producing an enzyme called alpha-N-acetylglucosaminidase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. Alpha-N-acetylglucosaminidase is involved in the step-wise breakdown of large molecules called glycosaminoglycans (GAGs). GAGs are composed of sugar molecules linked together to form a long string. To break down these molecules, individual sugars are removed one at a time; alpha-N-acetylglucosaminidase removes a sugar called N-acetylglucosamine when it is at the end of the GAG chain.

Health Conditions Related to Genetic Changes

Mucopolysaccharidosis type III

At least 118 mutations in the NAGLU gene have been found to cause mucopolysaccharidosis type IIIB (MPS IIIB). Most of these mutations change single DNA building blocks (nucleotides) in the gene, and all reduce or eliminate the function of alpha-N-acetylglucosaminidase.

The lack of alpha-N-acetylglucosaminidase activity disrupts the breakdown of a subset of GAGs called heparan sulfate. As a result, partially broken down heparan sulfate accumulates within lysosomes. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts normal cell function. It is currently unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS IIIB.

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease.

Other Names for This Gene

  • alpha-N-acetylglucosaminidase
  • alpha-N-acetylglucosaminidase precursor
  • ANAG_HUMAN
  • N-acetylglucosaminidase, alpha
  • N-acetylglucosaminidase, alpha-
  • NAG
  • UFHSD

Frequently Asked Questions

Current options include enzyme replacement therapy (though not yet approved for MPS IIIB), substrate‑reduction therapy, and investigational gene‑therapy trials that aim to restore functional NAGLU enzyme. Supportive care—such as physical, occupational, and speech therapy—remains the mainstay of management.
MPS IIIB is inherited in an autosomal recessive pattern, meaning both parents must carry one defective NAGLU allele for a child to be affected. Carrier testing for parents and at-risk relatives is recommended, and prenatal or pre‑implantation genetic diagnosis can be considered if both parents are carriers.
MPS IIIB often presents with subtle developmental delays in speech and motor skills, progressive loss of previously acquired skills, frequent respiratory infections, and behavioral changes such as hyperactivity or sleep disturbances. Parents should also watch for signs of progressive vision or hearing loss, and a tendency toward frequent ear infections or enlarged tonsils. Early evaluation by a metabolic specialist can help confirm the suspicion.
Prior to testing, parents should receive genetic counseling to understand the implications of results, confirm the specific mutation to be tested, and discuss whether the test will be a single‑gene analysis or part of a broader lysosomal storage disorder panel. Blood or saliva samples are typically used; ensure the sample is collected in the correct tube and shipped promptly to the laboratory.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ