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Mucopolysaccharidosis-Plus Syndrome

Filipp Vasilev1,2,3, Aitalina Sukhomyasova3, Takanobu Otomo1

  • 1Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Okayama 701-0192, Japan.

International Journal of Molecular Sciences
|January 16, 2020
PubMed

Insights

Mucopolysaccharidosis-plus syndrome (MPSPS) is a severe genetic disorder caused by a VPS33A mutation, affecting glycosaminoglycan metabolism. Early diagnosis and supportive care are crucial due to the unfavorable prognosis and lack of specific therapies.

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Mucopolysaccharidosis-plus syndrome (MPSPS) is a novel genetic disorder characterized by impaired glycosaminoglycan (GAG) metabolism.
  • Unlike conventional mucopolysaccharidoses (MPS), MPSPS is not caused by deficiencies in known lysosomal enzymes.

Observation:

  • MPSPS is an autosomal recessive multisystem disorder linked to the p.R498W mutation in the VPS33A gene.
  • The VPS33A p.R498W mutation does not appear to affect endocytic or autophagic pathways in patient fibroblasts.
  • Nineteen cases have been identified, predominantly in the Yakut population of Russia, with two cases from Turkey.

Findings:

  • MPSPS patients exhibit clinical features overlapping with conventional MPS, alongside additional complications like congenital heart defects, and renal and hematopoietic disorders.
  • Diagnosis relies on clinical presentation resembling MPS and confirmed molecular genetic testing for the VPS33A mutation.

Implications:

  • The severe nature of MPSPS, with a high mortality rate in infancy (10-20 months), highlights the urgent need for further research.
  • Current management is limited to supportive and symptomatic treatment, emphasizing the critical need for developing specific therapies for this rare genetic condition.
Keywords:
HOPSMPSPSVPS33Aglycosaminoglycanslysosomal storage disordersmucopolysaccharidosis-plus syndrome

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