metachromatic leukodystrophy


metachromatic leukodystrophy
metachromatic leukodystrophy n a hereditary neurological disorder of lipid metabolism characterized by the accumulation of cerebroside sulfates, loss of myelin in the central nervous system, and progressive deterioration of mental and motor activity

* * *

an autosomal recessive disorder due to deficiency of cerebroside-sulfatase (caused by mutation in the ARSA gene, locus: 22q13.31-qter) or saposin B (caused by mutation in the PSAP gene, locus: 10q22.1). It is characterized by accumulation of sulfatide in neural and nonneural tissues, with a diffuse loss of myelin in the central nervous system. There are three forms due to deficiency of cerebroside sulfatase, with variable age of onset, all initially presenting as mental regression and motor disturbances. The infantile form usually begins in the second year of life and is additionally characterized by developmental delay, seizures, optic atrophy, ataxia, weakness, loss of speech, and progressive spastic quadriparesis. The juvenile form is clinically similar, but presents between the ages of 4 and 12 years and progresses more slowly; a variant of the juvenile form is caused by deficiency of saposin B. The adult form begins after 16 years of age, generally presenting initially as dementia and disturbances in behavior and progressing more slowly to motor and posture disturbances. Called also sulfatide lipidosis.

Medical dictionary. 2011.

Look at other dictionaries:

  • Metachromatic leukodystrophy — Classification and external resources Sulfatide ICD 10 E75.2 …   Wikipedia

  • metachromatic leukodystrophy — ▪ pathology       rare inherited metabolic disease in which the lack of a key enzyme causes loss of the protective myelin sheath from the white matter of the brain, resulting in psychological disturbances, mental deterioration, and sensory and… …   Universalium

  • Leukodystrophy — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32504 ICD10 = ICD10|E|71|3|e|70, ICD10|E|75|2|e|70 ICD9 = ICD9|330.0 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Leukodystrophy refers to a group of disorders… …   Wikipedia

  • Leukodystrophy — A disorder of the white matter of the brain, the part of the brain that contains myelinated nerve fibers. The white matter is white because it is the color of myelin, the insulation covering the nerve fibers. (The white matter is as opposed to… …   Medical dictionary

  • metachromatic leukoencephalopathy — see under leukodystrophy …   Medical dictionary

  • sulfatide lipidosis — metachromatic leukodystrophy …   Medical dictionary

  • Arylsulfatase A — PDB rendering based on 1auk …   Wikipedia

  • Prosaposin — PDB rendering based on 1m12 …   Wikipedia

  • Psychosis — Not to be confused with Psychopathy. For other uses, see Psychosis (disambiguation). Psychosis Classification and external resources ICD 10 F20 F29[1] ICD 9 …   Wikipedia

  • Leukoencephalopathy with vanishing white matter — Classification and external resources OMIM 603896 Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the… …   Wikipedia


We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.