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leukodystrofia metachromatická
Č. záznamu d007966 Dátum 06.06.2025 Typ M Tematický termín leukodystrofia metachromatická Iný termín Angličtina (Pseudonym) Arylsulfatase A Deficiency Disease
Angličtina (Pseudonym) Cerebroside Sulphatase Deficiency Disease
Slovenčina (Pseudonym) choroba z deficitu arylsulfatázy A
Slovenčina (Pseudonym) choroba z deficitu cerebrozidsulfatázy
Pozri tiež (Novšie záhlavie) cerebrozidsulfatáza
(Skutočné meno) cerebrozidsulfatáza
MDT C10.228.140.163.100.362.550C10.228.140.163.100.435.825.850.500C10.228.140.695.625.550C10.314.400.550C16.320.565.189.362.550C16.320.565.189.435.825.850.500C16.320.565.398.641.803.925.500C16.320.565.595.554.825.850.500C18.452.132.100.362.550C18.452.132.100.435.825.850.500C18.452.584.563.641.803.925.500C18.452.648.189.362.550C18.452.648.189.435.825.850.500C18.452.648.398.641.803.925.500C18.452.648.595.554.825.850.500 Poznámka An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. 
predmetové heslo
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