Multiple Sulfatase Deficiency Disease (definition)

encyclopedia of medical concepts

ψ
ψ
ψ
ψ
ψ
ψ
ψ
ψ
ψ

Multiple Sulfatase Deficiency Disease

More information in Books or on

Definition: An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.

Other names Sulfatidosis, Juvenile; Sulfatidoses, Juvenile; Multiple Sulfatase Deficiencies; Juvenile Sulfatidoses; Sulfatidosis, Juvenile, Austin Type; Sulfatidosis Juvenile, Austin Type; Multiple Sulphatase Deficiency Disease; Multiple Sulfatase Deficiency; Mucosulfatidosis; Juvenile Sulfatidosis

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link

Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor

We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy