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Natural history of Sanfilippo syndrome in Spain

Verónica Delgadillo1, Maria del Mar O'Callaghan, Laura Gort

  • 1Neuropediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain. vdelgadillo@hsjdbcn.org.

Orphanet Journal of Rare Diseases
|December 10, 2013
PubMed
Abstract

Insights

Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a rare genetic disorder. This study highlights MPS IIIA as the most common subtype in Spain, emphasizing early diagnosis for better patient outcomes.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Biochemistry of heparan sulfate degradation

Background:

  • Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, results from deficiencies in four key enzymes for heparan sulfate lysosomal degradation.
  • MPS III exhibits significant phenotypic heterogeneity across its four recognized types.
  • This study provides the first description of the natural history of Sanfilippo syndrome in Spain, covering MPS IIIA, MPS IIIB, and MPS IIIC.

Purpose of the Study:

  • To establish the natural history of MPS III in a Spanish cohort.
  • To understand patient prognosis and inform the development of future therapies.
  • To analyze clinical, biochemical, and molecular data for Spanish MPS III patients.

Main Methods:

  • Retrospective study design.
  • Extensive chronological data collection from physicians and parents of 55 Spanish MPS III patients.
  • Inclusion of clinical descriptions, biochemical, and molecular analyses.

Main Results:

  • MPS IIIA was the most frequent subtype (62%).
  • Common early symptoms included speech delay (85%), coarse facial features (78%), and hyperactivity (65%) around age 3.
  • Median diagnosis ages were 4.4 years (IIIA), 3.1 years (IIIB), and 6.3 years (IIIC). Epilepsy developed in 45% of patients around age 8.7.
  • Molecular analysis showed significant allelic heterogeneity without clear genotype-phenotype correlations.

Conclusions:

  • MPS IIIA is the predominant subtype among Spanish Sanfilippo patients.
  • Physicians should suspect Sanfilippo syndrome in children presenting with non-specific speech delay, behavioral issues, or mild dysmorphic features.
  • Early diagnosis is crucial for implementing timely enzymatic or gene therapies to improve patient prognosis.

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