D2I2.
genetic

Maroteaux–Lamy syndrome

Maroteaux–Lamy , or mucopolysaccharidosis type VI (MPS-VI), is an inherited disease caused by a in the arylsulfatase B (ARSB). ARSB is responsible for the breakdown of large sugar molecules called glycosaminoglycans. In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of storage disease.

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Symptoms — what it feels like

  • ·Variable. May include: Macrocephaly, Hydrocephalus, Coarse facial features, Heart valve disease, Enlarged liver and , Umbilical hernia

Causes — why it happens

  • · in the ARSB gene

Outlook

  • ·Reduced life expectancy
Plain-language summary adapted from Wikipedia. Not medical advice.