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mucosulfatidosis (MSD) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include common findings: Cloudy or opaque cornea (corneal opacity). 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Ataxia, Hydrocephalus, Abnormal periventricular white matter morphology
Muscles	3	Shrinkage of the cerebellum (cerebellar atrophy), Brain shrinkage (cerebral atrophy), Neonatal hypotonia
Eyes	2	Cloudy or opaque cornea (corneal opacity), Retinal degeneration
Digestive system	2	Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly)
Head and neck	2	Coarse facial features, Flat face
Ears	1	Hearing loss (hearing impairment)
Growth and development	1	Short stature
Bones and joints	1	Hypoplastic vertebral bodies
Blood and immune system	1	Enlarged spleen (splenomegaly)
Arms and legs	1	Lower limb hyperreflexia
Skin	1	Dry, scaly skin (ichthyosis)
Lab test results	1	Increased CSF protein concentration
Pregnancy and birth	1	Neonatal hypotonia

GeneReviews

Clinical Guidance

Multiple sulfatase deficiency (MSD) is a multisystem lysosomal storage disorder with variable age of onset and wide variability in clinical presentation and rate of progression. Initial symptoms can present from infancy through early childhood . Many individuals experience global regression between age two and six years, approximately 12-60 months after symptom onset. Earlier onset of regression correlates with increased disease severity . Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders, while others present primarily with neurologic regression .

Natural History

Based on age of onset, rate of progression and disease severity, several different subtypes of MSD have been described . The severity of the condition may correlate with the stabi...

Source: GeneReviews — "Multiple Sulfatase Deficiency"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal clinical diagnostic criteria for multiple sulfatase deficiency have not been established.

Suggestive Findings

Multiple sulfatase deficiency should be suspected in individuals with the following clinical, laboratory, and imaging findings.

Clinical findings

Developmental delay with subsequent neurologic regression and psychomotor retardation
Macrocephaly with or without hydrocephalus
Epilepsy
Poor growth with a progressive decrease in growth rate
Coarse facial features
Recurrent otitis media and/or upper respiratory tract infections
Progressive hearing loss
Hepatosplenomegaly
Skeletal changes including kyphosis, gibbus deformity, hip dislocation, genu valgum
Cardiac hypertrophy or thickening of cardiac valves
Ichthyosis

Laboratory findings

Source: GeneReviews — "Multiple Sulfatase Deficiency"

GeneReviews

Differential Diagnosis

Table 2. Disorders to Consider in the Differential Diagnosis of Multiple Sulfatase Deficiency (MSD)

Disorder	Gene(s)	MOI	Clinical Features of Differential Diagnosis Disorder
ARSA	AR	All MLD features can be found in MSD, incl central peripheral demyelination progressive neurologic deterioration	Absence of other systemic findings assoc w/MSD Saposin B deficiency (OMIM 249900)
PSAP	AR

Genetic testing for SUMF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mucosulfatidosis has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for mucosulfatidosis. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for mucosulfatidosis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for mucosulfatidosis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
recombinant serotype 9 adeno-associated virus encoding codon optimized human sulfatase modifying factor 1	recombinant serotype 9 adeno-associated virus encoding codon optimized human sulfatase modifying factor 1	National Center for Advancing Translational Sciences, National Institutes of Health	2024	—	Designated

Gene therapy approaches for mucosulfatidosis have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with multiple sulfatase deficiency, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Multiple Sulfatase Deficiency

System/Concern	Evaluation	Comment
Neurologic	Consultation w/neurologist	Due to risk for central peripheral demyelination, seizures, hydrocephalus Consideration of brain imaging
Musculoskeletal	Consideration of spine imaging (radiographs /or MRI), incl C-spine images

Clinical Trials

3 trials found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

No definitive surveillance guidelines have been established, although particular attention to and monitoring of the cardiac, respiratory, ophthalmologic, neurologic, skeletal, and gastroenterologic systems is indicated . Table 5. Surveillance to Consider for Individuals with Multiple Sulfatase Deficiency

System/Concern	Evaluation	Frequency
Neurologic	Head circumference measurement	At each visit Serial brain/spine imaging1
Musculoskeletal	Vitamin D level2	Annually or as needed C-spine imaging (radiographs /or MRI)
Ophthalmologic	Eye exam intraocular pressure assessment	At least annually or as needed
Cardiovascular	Serial EKG echocardiography3	At least annually
Otolaryngologic	Audiology eval	At least annually, or as needed Gastrointestinal/
Nutrition	Weight height measurements	W/all clinical assessments Serial abdominal ultrasound eval4
Respiratory	Consideration of sleep study PFTs	Periodically
Renal/Metabolic	Monitoring of blood urine acid-base balance	As clinically indicated w/episodes of physiologic stress
Developmental	Assessment of developmental milestones current developmental level	At each visit Neuropsychiatric testing

Source: GeneReviews — "Multiple Sulfatase Deficiency"

Phenotype severity distribution: 1 common feature.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 3 recruiting. Interventions under study include other interventions and biologic therapy. Research is primarily sponsored by academic and government institutions.

16 publications have been identified in PubMed for mucosulfatidosis. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (25%), and Gene Therapy / Novel Therapeutics (25%).

Research Type	Count	% of Total
Testing and diagnosis research	4	25%
Patient case studies	4	25%
New treatment approaches	4	25%
Laboratory research	2	13%
Research summaries	1	6%
Disease patterns and progression	1	6%

Recent Publications

Donti TR (2026). [PMID: 42027693](https://pubmed.ncbi.nlm.nih.gov/42027693/). *Mol Genet Metab Rep*. [Diagnostic / Biomarker]
Kagiava A (2026). [PMID: 42134074](https://pubmed.ncbi.nlm.nih.gov/42134074/). *EBioMedicine*. [Review / Meta-Analysis]
van der Ham M (2025). [PMID: 40155161](https://pubmed.ncbi.nlm.nih.gov/40155161/). *Anal Chim Acta*. [Diagnostic / Biomarker]
Gavazzi F (2025). [PMID: 40368343](https://pubmed.ncbi.nlm.nih.gov/40368343/). *J Child Neurol*. [Epidemiology / Natural History]
Cusmano-Ozog K (2025). [PMID: 39944056](https://pubmed.ncbi.nlm.nih.gov/39944056/). *Genet Med Open*. [Diagnostic / Biomarker]
Su XY (2025). [PMID: 40393754](https://pubmed.ncbi.nlm.nih.gov/40393754/). *Zhonghua Er Ke Za Zhi*. [Diagnostic / Biomarker]
Tricoli L (2025). [PMID: 40171445](https://pubmed.ncbi.nlm.nih.gov/40171445/). *Mol Ther Nucleic Acids*. [Gene Therapy / Novel Therapeutics]
Lipiński P (2025). [PMID: 39776369](https://pubmed.ncbi.nlm.nih.gov/39776369/). *J Appl Genet*. [Case Report / Case Series]
Presa M (2025). [PMID: 39870870](https://pubmed.ncbi.nlm.nih.gov/39870870/). *Commun Med (Lond)*. [Gene Therapy / Novel Therapeutics]
Markaki SP (2025). [PMID: 41511290](https://pubmed.ncbi.nlm.nih.gov/41511290/). *Cells*. [Basic Science / Preclinical]

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mucosulfatidosis

Overview

Clinical Presentation

Clinical Guidance

Natural History

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

mucosulfatidosis

Overview

Clinical Presentation

Clinical Guidance

Natural History

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team