metachromatic leukodystrophy


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Related to metachromatic leukodystrophy: Krabbe disease, adrenoleukodystrophy

metachromatic leukodystrophy

[¦med·ə·krō′mad·ik ‚lü·kə′dis·trə·fē]
(medicine)
A hereditary degenerative disease transmitted as an autosomal recessive, due to sulfatase A deficiency, with excess accumulation of sulfated lipids responsible for metachromasia in various tissues. Abbreviated MLD. Also known as sulfatide lipidosis.
References in periodicals archive ?
On April 24, 2008 Shire announced that it acquired from Zymenex A/S ("Zymenex") the global rights to the clinical candidate arylsulfatase-A ("ASA"), currently known as METAZYM(TM), being investigated for the treatment of Metachromatic Leukodystrophy ("MLD").
Peter Whitehouse with his son Jack, aged five, who has been diagnosed with Metachromatic Leukodystrophy (MLD), a rare disorder which affects the nerve endings in the brain Picture, NEIL PUGH
Metachromatic leukodystrophy impairs the development of the myelin sheath, a fatty covering that insulates nerve fibers.
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome.
Metachromatic Leukodystrophy (MLD) is in the family of lysosomal storage diseases (LSD's).
The family of Dudley five-year-old Emily Hart, who cannot walk or talk or feed herself because of metachromatic leukodystrophy, are hoping for a miracle cure.
Mr Nicholson, who was raising money for research into a rare genetic condition, metachromatic leukodystrophy, [corr] which affects his five-year-old granddaughter Emily, said the award had been a big boost.
Jack Whitehouse, aged five, was already confirmed to have the rare and terrible brain disease metachromatic leukodystrophy.
Bone marrow transplantation for globoid cell leukodystrophy, adrenoeukodystrophy, metachromatic leukodystrophy, and Hurler syndrome.
Diseases: Metabolic disease, lysosomal storage disorders, mucopolysaccharidoses, Hurler-Scheie disorder, Hunters syndrome, Morquios syndrome, Sanfi lippos syndrome, Slys syndrome, Maroteaux-Lamy syndrome, sphingolipidoses, metachromatic leukodystrophy, Tay-Sachs disease, Krabbes disease, Wolmans disease, cholesteryl ester storage disease, Gauchers disease, Fabrys disease, Niemann-Pick disease, glycogen storage disorders, Pompes disease, von Gierkes disease, Andersens disease, McArdles disease, Coris disease, Hers disease, Taruis disease, Fanconi-
A deficiency of arylsulfatase A activity leads to the relatively common lysosomal storage disorder metachromatic leukodystrophy (21).