Metachromatic leukodystrophy

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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)
Types	Late infantile, juvenile, or adult
Causes	Lysosomal storage disease
Diagnostic method	Enzyme based and genetics
Treatment	HSCT (pre-symptomatic), Gene therapy (late infantile), Palliative
Prognosis	fatal
Frequency	1 in 40,000 births

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]