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Biochem Diseases > Special Topic > Flashcards

Special Topic Flashcards

0
Q

All mucopolysaccharidoses are autosomal reccessive except

A

Hunter syndrome

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1
Q

Deficiency of ____________ leads to accumulation of GAGS in lysosomes

A

Hydrolases

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2
Q

All mucopolysaccharidoses have mental retardation except

A

Morquio’s syndrome

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3
Q

Deficiency: iduronate sulfatase

A

Hunters syndrome

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4
Q

Deficiency: a-L iduronidase

A

Hurlers syndrome

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5
Q

Deficiency: galactose -6 sulfatase

A

Morquios syndrome

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6
Q

Cardiomegaly
Mental retardation
NO CORNEAL clouding

A

Hunters syndrome

hurlers- with corneal clouding

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7
Q

Deficienct phosphorylation of mannose residuesin N linked glycoprotein enzyme

A

I cell disease

No enzyme reaches the lysosomes

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8
Q

Alteration in the glycosylation of IgG molecules

A

Rheumatoid arthritis

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9
Q

In Malaria attachment of p. Falciparum is mediated by

A

GPI

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10
Q

Oligosaccharides that determine the specific nature of the ABO system

A

Glycosphingolipids

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11
Q

Adrenergic or Neuroglycopenic?

Tachycardia,tremors, diaphoresis

A

Adrenergic

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12
Q

Adrenergic or Neuroglycopenic?

Confusion, seizure, coma

A

Neuroglycopenic?

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13
Q

Protein deprivation

A

Kwashiorkor

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14
Q

Calorie deprivation

A

Marasmus

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15
Q

Anemia and extreme wasting

Normal plasma protein

A

Marasmus

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16
Q

Edema
Very low plasma protein
Fatty liver
Depigmented hair

A

Kwashiorkor

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17
Q

3 malabsorption syndrome related to FAT SOLUBLE vitamins

A

Cystic fibrosis
Celiac sprue
Mineral oil intake

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18
Q

Teratogenic vitamin

A

A

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19
Q

Vitamin deficiency in CKD

20
Q

Urolithiasis
Pain, osteoporosis
Constipation, PUD, pancreatitis
Depression, anxiety

A

Hypercalcemia

Stones, Bones, Groans, psychiatric Overtones

21
Q

Tetany
Chvostek
Trosseau

A

hypocalcemia

22
Q

HYPO or HYPER calcemia

Long QT

A

HYPOcalcemia

23
Q

Most toxic vitamin

24
Q

Least toxic vitamin

25
Q

RBC fragility

Neurologic dysfunction

26
Q

Water soluble vitamins are generally non toxic except

27
Q

Wernicke korsakoff syndrome

A

Vitamin B1

28
Q

Diarrhea
Dementia
Dermatitis

29
Q

Dermatitis
Enteritis
Alopecia

A

B5 pantothenic acid

30
Q

Megaloblastic anemia with eurologic symptom

31
Q

Tetrahydrofolate synthesis

Trimethoprim inhibits?

A

Dihydrofolate reductase

32
Q

Tetrahydrofolate synthesis

Sulfamethoxazole inhibits?

A

Dihydropteroate synthase

33
Q

Deficiency causes megaloblastic anemia and hypersegmented neutrophils

A

Folic Acid

34
Q

Loose teeth
Swollen joints
Fragile vessels
Anemia

A

Vitamin. C

35
Q

Most common micronutrient deficiency worldwide

A

IDA

⬆️TIBC

36
Q

Iron overload

A

Hemochromatosis

37
Q

Most abundant mineral trace in the body

38
Q 
Dermatitis
Poor wound healing
Decreased taste acuity
Testicular atrophy
Poor growth
39
Q

Dermatitis
Alopecia
Diarrhea

A

Acrodermatitis enterohepatica

40
Q

Hepatolenticular degeneration
Intestinal absorption is intact
Biliary excretion is blocked
Kayser fleischer rings

A

Wilsons disease

41
Q

Cardiomegaly in endemic parts of china due to ⬇️selenium

A

Keshan disease

42
Q

PABA analogs that inhibits folic acid synthesis

A

Sulfonamides

43
Q

X linked HGPRT deficiency

A

Lesch-Nyhan syndrome

44
Q

Purine overproduction
Hyperuricemia
⬆️ PRPP
⬆️ribose5 phosphate

A

Von gierke disease

45
Q

SCID

⬆️d ATP that inhibits ribonucleotide reductase

A

Adenosine deaminase

46
Q

Inhibits thymidylate synthase

47
Q

Hyperuricemia
Mental rtardation
Self mutilation

A

Lesch nyhan syndrome

Biochem Diseases (6 decks)

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