|
Abeta |
FHBL
Heterozygous
(one mutation) |
FHBL
Homozygous
(two mutations) |
CMRD |
Failure to thrive |
Yes |
Rarely |
Yes |
Yes |
Acanthocytes |
Yes |
Rarely |
Some |
Some |
Fat malabsorption |
Yes |
Some |
Yes |
Yes |
Fat soluble vitamin deficiency |
Yes |
Some |
Yes |
Yes |
Neurological symptoms |
Reduced or may be eliminated with vitamin supplementation |
Reduced or may be eliminated with vitamin supplementation |
Reduced or may be eliminated with vitamin supplementation |
Reduced or may be eliminated with vitamin supplementation |
Eye disorders |
Reduced or may be eliminated with vitamin supplementation |
Reduced or may be eliminated with vitamin supplementation |
Reduced or may be eliminated with vitamin supplementation |
Reduced or may be eliminated with vitamin supplementation |
Fat accumulation in liver |
Some |
Yes |
Yes |
No |
Fat accumulation in small intestine |
Yes |
No |
No |
Yes |
Gene location |
4q22-q24 |
2p24
3p22-p21.1
+ others |
2p24
3p22-p21.1
+ others |
5q31.1 |
Inheritance |
Autosomal Recessive |
Autosomal Dominant |
Autosomal Dominant |
Autosomal Recessive |