Biochemistry 🧪 Flashcards
Beri beri
Carb rich diet
Thiamine B1 deficit
Pellegra
3Ds
Dermatitis
Dementia
Diarrhea
Niacin B3 deficit
Wernicke Korsakoff Syndrome
Severe thiamine B1 deficit
Pernicious Anemia
Malabsorption»_space;> B12 deficit
Loss of intrinsic factor
Xeroopthalmia
Dryness of cornea and conjunctiva
Due to over keratinization of cornea
Itchy burning eye ,bloodshot eyes
Angular stomatitis .chieolosis
Seborrhea ( dandruff)
Photophobia
Vit Deficit?
Derive from milk/egg/cereal / meat
Riboflavin B2
Seen in alcoholic
NAD+ / NADP+ derived from which vitamin ?
B3 Niacin
B3 Act as cofactor for redox reaction
Niacin derived from which aminoacid ?
Tryptophan
Also B1/ 2/6 required for Niacin synthesis
Which vitamin derivative can treat and lower hyper cholesterolemia?
Nicotine Acid
B3- Nicotinic acid + nictotinamide
Penicillimine ( used to treat for RA and Cystinuria ) can lead to which Vit deficit ?
Hint : Vit is important cofactor for GABA synthesis
B6 - PLP ( active form )
Insomnia
Muscular control
Leg cramps
Dermatitis
Slow learning
Sluggish
B12 and folate deficit lead to anemia . Why?
Folate trap
B12 cofactor for methionine synthesis from homocysteine
Cannot synthesis nucleotides (DNA) for Hgb
NYs- purine and thymidine
Complication of homocystinuria
CVS diseases»_space; neg impact on collagen and elastin for arteries /bones / joints /etc
Thrombosis
Enz def in fructosuria is ?
Elevated enz?
Deficiency - Frucktose kinase
Elevated - fructose (urine)
Hereditary fructose intolerance?
Enz def? Enz elevated ?
Enz- Aldose B
Elevated - fructose 6 -P
Def of Glucose-1-Phosphate
Diet : Avoid lactose
Infant can’t tolerance breastfeeding (milk)
Got jaundice / Hepatomegaly
Ds? What complication ?
Galactosemia
E. coli sepsis
Cataract
No smile
Can’t track object
Typical of what metabolic disorder ?
Galactose kinase
Increase galactose in Blood /urine
Mucopplysarcoidosis subtype
Hunter Vs Hurler
Hunter
- less severe
-X linked recessive
Hurler
-More severe
-impaired vision
Cloud cornea
Gargoyle facie
AR
Problems with amino acid reabsorption
COLA
COLA(Cystine ,ornithine,Lysine,Arginine)
Cystinuria
Obstruction of urine flow , kidney stones ,
Rx: alkalinize urine
Function of lysosome
“Cell trash can”
-thrive at low ph
-storage of digestive Enz - lipase/protease
Lysosomal storage disorder - accumulation of toxic metabolites
Tay Zach
Lysosomal SD
JEW
Cherry Red macula
Onion Skin
Metachromatic leukodystrophy
Demyelination (CNS+PNS)
Ataxia /Memory loss
AR
Nienann Pick
Macrophage *foamy cell
+ lipid +++
Fabry disease
Triad - hypoanhydrosis / P.Neuropathy / Angiokeratoses
Lysosomal SD(GLA-gene)
Gaucher Ds
Lysosomal SD
*tissue paper cell
A vascular necrosis
Cytopenia
Clinical vignant of Vitamins
B1 ,B3,B9,B12
B1-Thiamine - wet/Dry beri Beri / WE/ KSK confabulation /CNS features
B3 a Niacin ( Pellegra) - 3D- Dementia/Dermatitis /Deiarrhea /Hartnup ds/ cause - Renal ds—> 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
Pernicious Anemia
IgA—> IF —> malabsorption of B12 deficiency
Tea and Toast diet
Seaman disease
Corkscrew hair
Harmathroses
Vit C
Scurvy
Important for collagen synthesis * triple helix collagen linkage
What vitamin treat APML ?
ATRA
all trans-retinoic acid
Bitot spot
Vitamin A deficiency
Night blindness - photoreceptor *Opsin protein
Active form of vitamin D
1,25 OH D3 (activated in kidney)—> absorb Ca2*
What molecules has high affinity with cyanide and cause toxicity ?
Ferric(Fe3+) + Hgb —> methemoglobin
Destroy RBC - cellular respiration /Cytochrome C - lactate acidosis ( decrease O2 to tissue)
