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GTR Home > Conditions/Phenotypes > Multiple sulfatase deficiency

Multiple sulfatase deficiency

Synonyms
Juvenile sulfatidosis; Mucosulfatidosis; Multiple Sulfatase Deficiency Disease; Sulfatidosis, Juvenile, Austin Type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Multiple Sulfatase Deficiency
Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described: Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life. Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years). Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation. Many of the features found in MSD are progressive, including neurologic deterioration, heart disease, hearing loss, and airway compromise.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lars Schlotawa
Laura Adang
Mauricio De Castro
view full author information

Available tests

83 tests are in the database for this condition.

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Clinical tests (83 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAPA3037, FGE, UNQ3037, SUMF1
    Summary: sulfatase modifying factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Iduronate 2-Sulfatase Deficiency, Mucopolysaccharidosis Type II, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Mucopolysacchardosis Type II (MPSII): Decreased Iduronate 2-Sulfatase (I2S) activity, 2022

Molecular resources

Consumer resources

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