Wolman Disease [Wolmanova nemoc]
- Terms
-
deficience lyzosomální kyselé lipázy
deficit kyselé lipázy
deficit lyzosomální kyselé lipázy
familiární xantomatóza
Wolmanova choroba
Wolmanova xantomatóza
-
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Acid Lipase Deficiency
Acid Lipase Disease
Cholesterol ester hydrolase deficiency
Familial Xanthomatosis
LAL Deficiency
LIPA Deficiency
Liposomal Acid Lipase Deficiency, Wolman Type
Lysosomal Acid Lipase Deficiency
Wolman Disease with Hypolipoproteinemia and Acanthocytosis
Wolman's Disease
Xanthomatosis, Familial
Xanthomatosis, Wolman's
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
- DUI
- D015223 MeSH Browser
- CUI
- M0023386
- Previous indexing
- Cholesterol Esters (1978-1988); Lipase (1966-1988); Lipid Metabolism, Inborn Errors (1966-1988); Lipoidosis (1966-1988); Xanthomatosis (1966-1988)
- History note
- 1989
- Public note
- 1989
Allowable subheadings
- BL
- blood 4
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- DI
- diagnosis 10
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 6
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 1
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 0
- GE
- genetics 2
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 1
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 3
- PP
- physiopathology 1
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 3
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0