Maroteaux-Lamy syndrome; polydystrophic dwarfism; mucopolysaccharidosis-6; MPS6
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Pathology
- aortic incompetence
- N-acetylgalactosamine-4-sulfatase deficiency
- 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
More general terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- ↑ 3.0 3.1 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: https://www.ncbi.nlm.nih.gov/pubmed/16970791