Mucopolysaccharidoses Types I-VII Differential Diagnoses

  • Author: Janette Baloghova, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Oct 10, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Janette Baloghova, MD, PhD  Lecturer, Medical Faculty, University of PJ Safarik; Dermatovenerologist, Faculty Hospital of L Pasteur, Slovak Republic

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Zuzana Baranova, MD, PhD  Senior Lecturer, Department of Dermatology, University of PJ Safarik at Kosice, Slovak Republic

Disclosure: Nothing to disclose.

Specialty Editor Board

Jacek C Szepietowski, MD, PhD  Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD  Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania State Milton S Hershey Medical Center

Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Professors of Dermatology, North American Hair Research Society, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Alexander Halagovec, MD, PhD, to the development and writing of this article.

References

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Table. Types of Mucopolysaccharidoses and Associated Enzyme Deficiencies
Mucopolysaccharidosis Type Syndrome NameDeficiencyEC Number
MPS type I-HHurler syndromeAlpha-L-iduronidase3.2.1.76
MPS type I-S



(formerly MPS type V)



Scheie syndromeAlpha-L-iduronidaseN/A
MPS type I-H/SHurler-Scheie syndromeAlpha-L-iduronidaseN/A
MPS type II, mildHunter syndrome, mild formL-sulfoiduronate sulfataseN/A
MPS type II, severeHunter syndrome, severe formL-sulfoiduronate sulfatase3.1.6.13
MPS type III-ASanfilippo syndrome type AHeparan sulfate sulfamidase3.1.6.14
MPS type III-BSanfilippo syndrome type BN -acetyl-alpha-D-glucosaminidase3.2.1.50
MPS type III-CSanfilippo syndrome type CAcetyl-coenzyme A (CoA): alpha-glucosamide N -acetyltransferase2.3.1.3
MPS type III-DSanfilippo syndrome type DN -acetyl-alpha-D-glucosamine-6-sulfatase3.1.6.14
MPS type IV-AMorquio syndrome, classic formN -acetylgalactosamine-6-sulfatase (gal-6-sulfatase)3.1.6.4
MPS type IV-BMorquiolike syndromeBeta-galactosidase3.2.1.23
MPS type VIMaroteaux-Lamy syndrome, mild formN -acetylgalactosamine-4-sulfatase (arylsulfatase B)N/A
MPS type VIMaroteaux-Lamy syndrome, severe formN -acetylgalactosamine-4-sulfatase (arylsulfatase B)3.1.6.1
MPS type VIISly syndromeBeta-glucuronidase3.2.1.31
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