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Maroteaux-Lamy syndrome; polydystrophic dwarfism; mucopolysaccharidosis-6; MPS6

Pathology: 1) aortic incompetence 2) N-acetylgalactosamine-4-sulfatase deficiency 3) accumulation of dermatan sulfate in lysosomes Genetics: - autosomal recessive - associated with defects in ARSB Clinical manifestations: - normal intelligence - abnormal growth - short stature - stiff joints - skeletal malformations - corneal clouding - hepatosplenomegaly - neonatal cholestasis [3] - cardiac abnormalities - wide variation in clinical severity

Related

dermatan sulfate

General

mucopolysaccharidosis (MPS)

Properties

ACCUMULATION: dermatan sulfate DEFICIENCY: aryl sulfatase-B

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
  3. Arslan N, Mavi A, Kalkan S et al Findings of hepatobiliary scintigraphy and liver biopsy in Maroteaux-Lamy syndrome presenting as neonatal cholestasis. Pediatr Int. 2006 Oct;48(5):498-500. PMID: 16970791