Condition

Multiple sulfatase deficiency

Endocrine, Nutritional and Metabolic Diseases

Multiple sulfatase deficiency, abbreviated MSD and also known as Austin disease or mucosulfatidosis, is a very rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in several sulfatase enzymes at once, or in the formylglycine-generating enzyme, which is the enzyme that activates the sulfatases. The Wikipedia lead notes that the disease resembles mucopolysaccharidosis. Because the lead is a single sentence, this entry holds only the alternative names, the inheritance pattern, the enzyme basis and the resemblance to a related group of disorders. It states no age of onset, symptoms, prevalence figure or treatment, and none is claimed. This is a record of what the source states, not medical advice.

Facts
Classification
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 2
Prevalence Band
Rare (Under 1 in 2000) 3
Sources
1. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 585
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the code
Quote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "E75.2", "Source": "ICD-10"
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2. Multiple sulfatase deficiency (Wikipedia)
  • Wikipedia article lead
    a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes
  • Wikipedia article lead [disease-category]
    a very rare autosomal recessive lysosomal storage disease
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3. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 585
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 585
Quote, Orphanet epidemiology, ORPHAcode 585
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Worldwide", "PrevalenceQualification": "Value and class", "PrevalenceType": "Point prevalence"
View the Source
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