Search on: ABETALIPOPROTEINEMIA 
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Descriptor English:   Abetalipoproteinemia 
Descriptor Spanish:   Abetalipoproteinemia 
Descriptor Portuguese:   Abetalipoproteinemia 
Synonyms English:   Bassen-Kornzweig Syndrome
Microsomal Triglyceride Transfer Protein Deficiency  
Tree Number:   C16.320.565.398.500.440.500
C18.452.584.500.875.440.500
C18.452.648.398.500.440.500
Definition English:   An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. 
History Note English:   1966(1964) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   12 
Unique Identifier:   D000012 

Occurrence in VHL: 		 

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