Lipids & Carbohydrates Diseases

Question 1

Hexoaminidase deficiency

Answer 1

progressive destruction of CNS due to GM2 ganglioside accumulation in brain

Question 2

Tay-Sachs

Answer 2

defect of hexosaminidase A

(frameshift mutation)

Manifestation:

• Cherry-spot in retina
• Progressive neurological deterioration
• death by age 5

Question 3

Sandhoff-Jatzkewitz

Answer 3

defect of both hexosaminidases

clinically indistinguishable from Tay-Sachs

Question 4

Hyperlipoproteinemia

Answer 4

abnormally elevated concentrations of specific lipoprotein particles in the plasma

Question 5

Hyperlipidemia

Answer 5

(increased plasma cholesterol and/or triglyceride)

is present in all hyperlipoproteinemias

Question 6

Dyslipidemia

Answer 6

abnormal cholesterol (TC, LDL-C, or HDL-C) and/or TG concentrations

Question 7

FAMILIAL HYPERCHOLESTEROLEMIA

Answer 7

Deficiency in a cell surface of LDL-R

High cholesterol (since birth)

High LDL-C leads to premature atherosclerosis, xanthomas of skin and tendons

Question 8

FAMILIAL LIGAND-DEFECTIVE APOPROTEIN B

Answer 8

Defective apo B-100

Abnormal interaction LDL  LDL-R

Clinically identical to Familial hypercholesterolemia

Question 9

HYPERLIPOPROTEINEMIA (A)

Answer 9

Abnormal LDL= “sinking” pre-beta LP

Apo-(a) attached to Apo-B-100 of LDL

Question 10

FAMILIAL HYPER Beta-LIPOPROTEINEMIA TYPE II

Answer 10

Defect of HMG CoA reductase activity regulation

Elevation of both LDL-C and TG; increased LDL

Question 11

FAMILIAL DYS - Beta -LIPOPROTEINEMIA TYPE III

Answer 11

Defective recognition of apo-E2 by the LDL-R

VLDL overproduction

Question 12

FAMILIAL COMBINED HYPERLIPIDEMIA TYPE IV

Answer 12

increased cholesterol and triglycerides, VLDL + LDL

Question 13

I Cell Disease

Answer 13

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

Question 14

Hurler’s Syndrome

Answer 14

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)

Question 15

SCHEIE SYNDROME

Answer 15

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)

Question 16

HUNTER SYNDROME

Answer 16

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)

Question 17

GALACTOSEMIA type I

Answer 17

defect in Galactose-1 Phosphate Uridyl Transferase

Manifestation:

• Failure to thrive
• Jaundice unconjugated.
• Liver disease and cirrhosis
• Ascitis
• Cataracts
• Mental retardation

Question 18

GALACTOSEMIA type II

Answer 18

defect in Galactokinase

ONLY cataracts

Question 19

GALACTOSEMIA type III

Answer 19

defect in Uridine Diphosphate 4 Epimerase

benign form

Question 20

Von Gierke’s (I)

Answer 20

Defect in G6Pase

Manifestation:

• Hepatomegaly
• Hypoglycemia

Question 21

Pompe’s (II)

Answer 21

Defect in Alpha-1,4-Glucosidase (lysosomal)

Manifestation:
- Cardiorespiratory failure

Question 22

Cori’s (III)

Answer 22

Defect in Debranching

Manifestation:

• Hepatomegaly
• Hypoglycemia

Question 23

Andersen’s (IV)

Answer 23

Defect in Branching

Manifestation:
- cirrhosis

Question 24

McArdle’s (V)

Answer 24

Defect in Phosphorylase

Manifestation:
- limited exercise

Question 25

Hers’ (VI)

Answer 25

Defect in Phosphorylase

Manifestation:

• Hepatomegaly
• Hypoglycemia

Question 26

Tauri’s (VII)

Answer 26

Defect in PFK1

Manifestation:
- limited exercise