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Biochem Diseases > Lipids > Flashcards

Lipids Flashcards

0
Q

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

A

CPT 1 deficiency

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1
Q

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

A

Carnitine Deficiency

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2
Q

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

A

CPT 2

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3
Q

Aka tree

Hypoglycin

A

Jamaican vomiting sickness

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4
Q

Decrease FA oxidation

Infants susceptible to SCIDS

A

Medium chain fatty acyl coA dehydrogenase (MCAD)

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5
Q

Phytanic acid

A

Refsum’s Disease

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6
Q

Inactivate short and medium chain acyl coA dehydrogenase

A

Jamaican vomiting sickness

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7
Q

Cerebrohepatorenal syndrome

Absent peroxisomes

A

Zellwegger’s Disease

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8
Q

Defact in peroxisomes activation of VLCFA

A

X-linked adrenoleukodystrophy

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9
Q

Urine test for ketone

A

Nitroprusside test

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10
Q

Competitive inhibitors pf HMG CoA rductase

A

Statins

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11
Q

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

A

ATHEROSCLEROSIS

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12
Q 
⬆️ VLDL production
Triad:
CAD
DM2
Obesity
A

Type 4 Familial hypertriglyceridemia

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13
Q

Lipoprotein lipase deficiency

⬆️ VLDL and chylomicron

A

Type 1 Familial lipoprotein lipase

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14
Q

LDL receptors deficiency

⬆️LDL

A

Type 2 familial hypercholeserolemia

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15
Q

Apo E deficiency

⬆️ remnant of VLDL and chylomicron

A

Type 3 familial Dysbetalipoproteinemia

16
Q

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

A

Cardiolipin

17
Q

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

A

Demyelinating Disease

18
Q

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

A

Sphingolipidoses

19
Q

Hexosaminidase a deficiency

A

Tay sachs disease

20
Q

A galactosidase deficiency

A

Fabry’s disease

21
Q

B- galactosidase deficiency

A

Krabbes disease

22
Q

B glucosidase deficiency

A

Gauchers disease

23
Q

Sphingomyelinase deficiency

A

Niemann pick disease

24
Q

Ceramidase deficiency

A

Farbers disease

25
Q

3R
Recessive x linked
Rash
Renal failure

A

fabrys disease

26
Q

Triad
Skin rash
Hoarseness
Bone malformation

A

Farbers disease

27
Q

Lipid accumulating in tay sach

A

GM2 Ganglioside

28
Q

Lipid accumulating in Niemann pick disease

A

Sphingomyelin

29
Q

Lipid accumulating in Farbers disease

Biochem Diseases (6 decks)

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