Lipids & Carbohydrates Diseases Flashcards
Hexoaminidase deficiency
progressive destruction of CNS due to GM2 ganglioside accumulation in brain
Tay-Sachs
defect of hexosaminidase A
(frameshift mutation)
Manifestation:
- Cherry-spot in retina
- Progressive neurological deterioration
- death by age 5
Sandhoff-Jatzkewitz
defect of both hexosaminidases
clinically indistinguishable from Tay-Sachs
Hyperlipoproteinemia
abnormally elevated concentrations of specific lipoprotein particles in the plasma
Hyperlipidemia
(increased plasma cholesterol and/or triglyceride)
is present in all hyperlipoproteinemias
Dyslipidemia
abnormal cholesterol (TC, LDL-C, or HDL-C) and/or TG concentrations
FAMILIAL HYPERCHOLESTEROLEMIA
Deficiency in a cell surface of LDL-R
High cholesterol (since birth)
High LDL-C leads to premature atherosclerosis, xanthomas of skin and tendons
FAMILIAL LIGAND-DEFECTIVE APOPROTEIN B
Defective apo B-100
Abnormal interaction LDL LDL-R
Clinically identical to Familial hypercholesterolemia
HYPERLIPOPROTEINEMIA (A)
Abnormal LDL= “sinking” pre-beta LP
Apo-(a) attached to Apo-B-100 of LDL
FAMILIAL HYPER Beta-LIPOPROTEINEMIA TYPE II
Defect of HMG CoA reductase activity regulation
Elevation of both LDL-C and TG; increased LDL
FAMILIAL DYS - Beta -LIPOPROTEINEMIA TYPE III
Defective recognition of apo-E2 by the LDL-R
VLDL overproduction
FAMILIAL COMBINED HYPERLIPIDEMIA TYPE IV
increased cholesterol and triglycerides, VLDL + LDL
I Cell Disease
Failure to target N-acetylglucosamine 1 phosphotransferase
Manifestation:
- Severe mental retardation
- Restricted joint movement
- Skeletal abnormalities
- Respiratory infections
- Cardiorespiratory complications
- Death, within the first ten years
Hurler’s Syndrome
defect in alpha-L-iduronidase
prevents normal catabolism of dermatan sulfate and heparan sulfate
Manifestation: (“gargoylism”)
- Hepatosplenomegaly
- Joint stiffness with claw hands
- Large head with coarse, thickened features
- Corneal clouding
Urine contains: dermatan sulfate & heparin sulfate (7:3)
SCHEIE SYNDROME
defect in alpha-L-iduronidase
Manifestation:
- Face is coarse
- Corneal clouding
- Cardiovascular disease
- Stiff joints
- Genu valgum
Urine contains: dermatan sulfate & heparin sulfate (3:2)
HUNTER SYNDROME
Deficiency in iduronate sulfatase
No corneal clouding
Manifestation: Deafness Stiff joints Mental deterioration Respiratory disease Cardiovascular disease
Urine contains: dermatan sulfate & heparin sulfate (1:1)
GALACTOSEMIA type I
defect in Galactose-1 Phosphate Uridyl Transferase
Manifestation:
- Failure to thrive
- Jaundice unconjugated.
- Liver disease and cirrhosis
- Ascitis
- Cataracts
- Mental retardation
GALACTOSEMIA type II
defect in Galactokinase
ONLY cataracts
GALACTOSEMIA type III
defect in Uridine Diphosphate 4 Epimerase
benign form
Von Gierke’s (I)
Defect in G6Pase
Manifestation:
- Hepatomegaly
- Hypoglycemia
Pompe’s (II)
Defect in Alpha-1,4-Glucosidase (lysosomal)
Manifestation:
- Cardiorespiratory failure
Cori’s (III)
Defect in Debranching
Manifestation:
- Hepatomegaly
- Hypoglycemia
Andersen’s (IV)
Defect in Branching
Manifestation:
- cirrhosis
McArdle’s (V)
Defect in Phosphorylase
Manifestation:
- limited exercise
Hers’ (VI)
Defect in Phosphorylase
Manifestation:
- Hepatomegaly
- Hypoglycemia
Tauri’s (VII)
Defect in PFK1
Manifestation:
- limited exercise
