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Medical condition
Metachromatic leukodystrophy
Other names
MLD, Arylsulfatase A deficiency, ARSA deficiency
Sulfatide
Specialty
Endocrinology, neurology
Symptoms
Progressive neurologic decline
Complications
Dementia, seizures, loss of motor skills
Usual onset
Late infantile (1-2 years), juvenile (3-20 years) or adulthood (around 40s)
Duration
Late infantile (3-10 years), juvenile and adult (varies)
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation.[1][2] Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.[2]
^"metachromatic leukodystrophy" at Dorland's Medical Dictionary
^ abLe, Tao; Bhushan, Vikas; Hofmann, Jeffrey (2012). First Aid for the USMLE Step 1. McGraw-Hill. p. 117. ISBN 9780071776363.
and 26 Related for: Metachromatic leukodystrophy information
Metachromaticleukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses...
inherit the leukodystrophy phenotype, he or she must carry two of the recessive, mutant alleles. Krabbe disease and metachromaticleukodystrophy (MLD) are...
MetachromaticLeukodystrophy". "Orchard Therapeutics Receives EC Approval for Libmeldy for the Treatment of Early-Onset MetachromaticLeukodystrophy (MLD)"...
with various pathologies, including neuropathologies, such as metachromaticleukodystrophy, Alzheimer's disease, and Parkinson's disease. Sulfatide is also...
disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromaticleukodystrophy. They are generally inherited in an autosomal recessive fashion...
name Libmeldy among others, is a gene therapy treatment for metachromaticleukodystrophy developed by Orchard Therapeutics. It contains an autologous...
ARSA gene. A deficiency in Arylsulfatase A is associated with metachromaticleukodystrophy, an autosomal recessive disease. Multiple sulfatase deficiency...
includes a lymphoid infiltrate around eccrine sweat glands. Metachromaticleukodystrophy, a lysosomal storage disease, leads to the accumulation of lipopigments...
onset Late onset Niemann–Pick disease Type A Type B Sulfatidosis Metachromaticleukodystrophy Saposin B deficiency Multiple sulfatase deficiency Mucopolysaccharidoses...
organs are possible. It is associated with a group of disorders called leukodystrophies, which are conditions characterized by degradation of neurological...
rare diseases on the differential include CNS lymphoma, congenital leukodystrophies, and anti-MOG-associated myelitis. Several phenotypes (commonly termed...
of the large group of leukodystrophy syndromes, it is often misdiagnosed as another type such as metachromaticleukodystrophy. More often than not, it...
random motion Multiple sulfatase deficiency, a very rare form of metachromaticleukodystrophy Musculoskeletal disorders Magnetic switchable device, a passive...
screening has not been as reliable in the general population. Metachromaticleukodystrophy. Low arylsulphatase A activity can occur in healthy individuals...
found, lysosomal storage disease is inclusion cell disease. Metachromaticleukodystrophy is another lysosomal storage disease that also affects sphingolipid...
Amaducci and colleagues hypothesized that Auguste Deter had metachromaticleukodystrophy, a rare condition in which accumulations of fats affect the cells...
been associated with Gaucher disease, Tay–Sachs disease, and metachromaticleukodystrophy. Saposin protein domain GRCh38: Ensembl release 89: ENSG00000197746...
recombinant enzyme that was studied in patients with late infantile metachromaticleukodystrophy, but found to be ineffective under the conditions of that trial...
disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and Metachromaticleukodystrophy. They are generally inherited in an autosomal recessive fashion...
ketogenesis pathway, and for the elucidation of the molecular cause of metachromaticleukodystrophy, a hereditary disease of the brain His studies on sugar-bearing...
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