Biochemistry πŸ§ͺ Flashcards

1
Q

Beri beri

A

Carb rich diet
Thiamine B1 deficit

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2
Q

Pellegra

A

3Ds
Dermatitis
Dementia
Diarrhea

Niacin B3 deficit

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3
Q

Wernicke Korsakoff Syndrome

A

Severe thiamine B1 deficit

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4
Q

Pernicious Anemia

A

Malabsorption&raquo_space;> B12 deficit
Loss of intrinsic factor

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5
Q

Xeroopthalmia

A

Dryness of cornea and conjunctiva
Due to over keratinization of cornea

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6
Q

Itchy burning eye ,bloodshot eyes
Angular stomatitis .chieolosis
Seborrhea ( dandruff)
Photophobia
Vit Deficit?
Derive from milk/egg/cereal / meat

A

Riboflavin B2
Seen in alcoholic

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7
Q

NAD+ / NADP+ derived from which vitamin ?

A

B3 Niacin
B3 Act as cofactor for redox reaction

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8
Q

Niacin derived from which aminoacid ?

A

Tryptophan
Also B1/ 2/6 required for Niacin synthesis

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9
Q

Which vitamin derivative can treat and lower hyper cholesterolemia?

A

Nicotine Acid
B3- Nicotinic acid + nictotinamide

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10
Q

Penicillimine ( used to treat for RA and Cystinuria ) can lead to which Vit deficit ?
Hint : Vit is important cofactor for GABA synthesis

A

B6 - PLP ( active form )
Insomnia
Muscular control
Leg cramps
Dermatitis
Slow learning
Sluggish

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11
Q

B12 and folate deficit lead to anemia . Why?

A

Folate trap
B12 cofactor for methionine synthesis from homocysteine
Cannot synthesis nucleotides (DNA) for Hgb
NYs- purine and thymidine

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12
Q

Complication of homocystinuria

A

CVS diseases&raquo_space; neg impact on collagen and elastin for arteries /bones / joints /etc
Thrombosis

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13
Q

Enz def in fructosuria is ?
Elevated enz?

A

Deficiency - Frucktose kinase
Elevated - fructose (urine)

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14
Q

Hereditary fructose intolerance?
Enz def? Enz elevated ?

A

Enz- Aldose B
Elevated - fructose 6 -P

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15
Q

Def of Glucose-1-Phosphate
Diet : Avoid lactose
Infant can’t tolerance breastfeeding (milk)
Got jaundice / Hepatomegaly
Ds? What complication ?

A

Galactosemia
E. coli sepsis

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16
Q

Cataract
No smile
Can’t track object
Typical of what metabolic disorder ?

A

Galactose kinase
Increase galactose in Blood /urine

17
Q

Mucopplysarcoidosis subtype
Hunter Vs Hurler

A

Hunter
- less severe
-X linked recessive

Hurler
-More severe
-impaired vision
Cloud cornea
Gargoyle facie
AR

18
Q

Problems with amino acid reabsorption
COLA

A

COLA(Cystine ,ornithine,Lysine,Arginine)
Cystinuria
Obstruction of urine flow , kidney stones ,
Rx: alkalinize urine

19
Q

Function of lysosome

A

β€œCell trash can”
-thrive at low ph
-storage of digestive Enz - lipase/protease
Lysosomal storage disorder - accumulation of toxic metabolites

20
Q

Tay Zach

A

Lysosomal SD
JEW
Cherry Red macula
Onion Skin

21
Q

Metachromatic leukodystrophy

A

Demyelination (CNS+PNS)
Ataxia /Memory loss
AR

22
Q

Nienann Pick

A

Macrophage *foamy cell
+ lipid +++

23
Q

Fabry disease

A

Triad - hypoanhydrosis / P.Neuropathy / Angiokeratoses
Lysosomal SD(GLA-gene)

24
Q

Gaucher Ds

A

Lysosomal SD
*tissue paper cell
A vascular necrosis
Cytopenia

25
Q

Clinical vignant of Vitamins
B1 ,B3,B9,B12

A

B1-Thiamine - wet/Dry beri Beri / WE/ KSK confabulation /CNS features

B3 a Niacin ( Pellegra) - 3D- Dementia/Dermatitis /Deiarrhea /Hartnup ds/ cause - Renal dsβ€”> Tryptophan reabsorption

B9(Folate )- the safest drug to prescribe during pregnancy / Neural tube defects / absorb- Jejunum/co-factor of NTs formation -THF

B12- chronic deficiency(alcoholic) / Megaloblastic anemia / hyper segmented Neut /SACD /Pernicious Anemia

26
Q

Pernicious Anemia

A

IgAβ€”> IF β€”> malabsorption of B12 deficiency

27
Q

Tea and Toast diet
Seaman disease
Corkscrew hair
Harmathroses

A

Vit C
Scurvy
Important for collagen synthesis * triple helix collagen linkage

28
Q

What vitamin treat APML ?

A

ATRA
all trans-retinoic acid

29
Q

Bitot spot

A

Vitamin A deficiency
Night blindness - photoreceptor *Opsin protein

30
Q

Active form of vitamin D

A

1,25 OH D3 (activated in kidney)β€”> absorb Ca2*

31
Q

What molecules has high affinity with cyanide and cause toxicity ?

A

Ferric(Fe3+) + Hgb β€”> methemoglobin

Destroy RBC - cellular respiration /Cytochrome C - lactate acidosis ( decrease O2 to tissue)