IEMbase 0249: ARSB-related N-Acetylgalactosamine 4-sulfatase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 249 |
| Nosology | 20.2.09.01 |
| Gene | ARSB |
| External IDs | OMIM:253200 |
| Generated mapping | MAPPED; Maroteaux-Lamy_syndrome.yaml |
| Candidate DisMech targets | Maroteaux-Lamy_syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ARSB-related N-acetylgalactosamine 4-sulfatase deficiency, with alternate labels mucopolysaccharidosis type 6, Maroteaux-Lamy disease, arylsulfatase B deficiency, and MPS VI. The record is autosomal recessive and treatability is marked unknown.
The treatment section contains galsulfase enzyme replacement therapy with level 2b evidence and PMID 33678523. Biochemical rows include decreased N-acetylgalactosamine-4-sulfatase activity and increased urinary dermatan sulfate and total glycosaminoglycans. Clinical rows include Alder-Reilly anomaly, cardiomyopathy, degenerative hip dysplasia, delayed tooth eruption, glaucoma, hearing loss, hernias, obstructive sleep apnea, spinal cord compression, sternal bulging, taurodontism, and upper airway obstruction. Characteristic rows include carpal tunnel syndrome, coarse facial features, corneal clouding, dysostosis multiplex, hepatosplenomegaly, joint contractures, kyphosis, recurrent otitis media, short stature, and valvular thickening.
DisMech phenotype coverage
Maroteaux-Lamy_syndrome.yaml is the correct local target. The local entry
covers MPS VI as ARSB/arylsulfatase B deficiency with dermatan sulfate and
chondroitin-4-sulfate storage. It captures preserved cognition, progressive
dysostosis, coarse facies, corneal clouding, cardiac valve disease, airway
obstruction, hepatosplenomegaly, joint stiffness and contractures, carpal
tunnel syndrome, cervical spinal cord disease, hearing impairment, galsulfase
enzyme replacement therapy, hematopoietic stem cell transplant, and supportive
or surgical management.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on ARSB/MPS VI identity, deficient arylsulfatase B activity, dermatan sulfate storage, total urinary GAG elevation, skeletal and joint disease, corneal clouding, hearing involvement, airway disease, spinal cord compression, hepatosplenomegaly, carpal tunnel syndrome, valvular disease, and galsulfase treatment. IEMbase adds useful review prompts for dental findings, glaucoma, otitis media, obstructive sleep apnea, and Alder-Reilly anomaly.
Curation actions
- Keep this record mapped to
Maroteaux-Lamy_syndrome.yaml. - No mapping correction is needed.
- Use IEMbase's dental, ocular, sleep-disordered breathing, otitis, and Alder-Reilly rows as enrichment prompts for future MPS VI review.