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GTR Home > Conditions/Phenotypes > Mucopolysaccharidosis, MPS-III-D

Mucopolysaccharidosis, MPS-III-D

Synonyms
MPS 3D; MPS III D; MUCOPOLYSACCHARIDOSIS, TYPE IIID; Mucopoly-saccharidosis type 3D; N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY; N-acetylglucosamine-6-sulfate sulfatase deficiency; Sanfilippo syndrome D
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Mucopolysaccharidosis Type III
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Victoria F Wagner
Hope Northrup
view full author information

Available tests

62 tests are in the database for this condition.

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Clinical tests (62 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: G6S, GNS
    Summary: glucosamine (N-acetyl)-6-sulfatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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