Lipids

Question 0

Reduced FA oxidation and ketogenesis with hypoglycemia that affects the LIVER only

Answer 0

CPT 1 deficiency

Question 1

Newborn manifest with hypoglycemia and muscle weakness due to impaired FA Oxidation

Answer 1

Carnitine Deficiency

Question 2

Reduced FA oxidation and ketogenesis with hypoglycemia that affects the SKELETAL muscle and when severe, affect LIVER

Answer 2

CPT 2

Question 3

Aka tree

Hypoglycin

Answer 3

Jamaican vomiting sickness

Question 4

Decrease FA oxidation

Infants susceptible to SCIDS

Answer 4

Medium chain fatty acyl coA dehydrogenase (MCAD)

Question 5

Phytanic acid

Answer 5

Refsum’s Disease

Question 6

Inactivate short and medium chain acyl coA dehydrogenase

Answer 6

Jamaican vomiting sickness

Question 7

Cerebrohepatorenal syndrome

Absent peroxisomes

Answer 7

Zellwegger’s Disease

Question 8

Defact in peroxisomes activation of VLCFA

Answer 8

X-linked adrenoleukodystrophy

Question 9

Urine test for ketone

Answer 9

Nitroprusside test

Question 10

Competitive inhibitors pf HMG CoA rductase

Answer 10

Statins

Question 11

Deposition of cholesterol and cholesteryl esters in artery wall from oxidized LDL that leads to endothelial damage

Answer 11

ATHEROSCLEROSIS

Question 12

⬆️ VLDL production
Triad:
CAD
DM2
Obesity

Answer 12

Type 4 Familial hypertriglyceridemia

Question 13

Lipoprotein lipase deficiency

⬆️ VLDL and chylomicron

Answer 13

Type 1 Familial lipoprotein lipase

Question 14

LDL receptors deficiency

⬆️LDL

Answer 14

Type 2 familial hypercholeserolemia

Question 15

Apo E deficiency

⬆️ remnant of VLDL and chylomicron

Answer 15

Type 3 familial Dysbetalipoproteinemia

Question 16

Phospholipid that reacts with antibodies produced agianst Treponema Pallidum (Syphilis)

Answer 16

Cardiolipin

Question 17

Deficiency in phospholipids and sphingolipids from WHITE MATTER resulting to ⬆️ CSF phospholipids

Answer 17

Demyelinating Disease

Question 18

Childhood lipid storage disease
Lipid synthesis:normal
Lipid degradation in lysosomes: abnormal

Answer 18

Sphingolipidoses

Question 19

Hexosaminidase a deficiency

Answer 19

Tay sachs disease

Question 20

A galactosidase deficiency

Answer 20

Fabry’s disease

Question 21

B- galactosidase deficiency

Answer 21

Krabbes disease

Question 22

B glucosidase deficiency

Answer 22

Gauchers disease

Question 23

Sphingomyelinase deficiency

Answer 23

Niemann pick disease

Question 24

Ceramidase deficiency

Answer 24

Farbers disease

Question 25

3R Recessive x linked Rash Renal failure

Answer 25

fabrys disease

Question 26

Triad Skin rash Hoarseness Bone malformation

Answer 26

Farbers disease

Question 27

Lipid accumulating in tay sach

Answer 27

GM2 Ganglioside

Question 28

Lipid accumulating in Niemann pick disease

Answer 28

Sphingomyelin

Question 29

Lipid accumulating in Farbers disease

Answer 29

Ceramide