Biochemistry Flashcards
Vitamin B3 deficiency sx? Function of B3? What are symptoms of overtreating Vit B3?
NIACIN
Vitamin B3 deficiency sx: dementia, diarrhea, dermatitis (collar rash)
Function: ingredient to make NAD, NADP
Overtreat: hyperuricemia (gout), hyperglycemia, *facial flushing
What disease can present as dementia, collar rash, diarrhea? Pathophysio?
Pellagra
Hartnup disease: lack of neutral acid cotransporter in renal tubule and gut (esp tryptophan), low tryptophan to be converted to niacin, pellagra like symptoms
Vitamin A deficiency sx? What are symptoms of overtreating Vit A?
night blindness, dry scaly skin, dry eyes, Bitot spots on eye corneum, keratomalacia
Overtreat: raised ICP, scaly skin, alopecia, Idiopathic intracranial hypertension
Vitamin B2 deficiency sx? Function of B2? What are symptoms of overtreating Vit B2?
RIBOFLAVIN
Vitamin B2 deficiency sx:
Function: ingredient to make FAD, FMN
Overtreat: cheilosis, corneal vascularization, Magenta tongue (purplish red)
Vitamin B1 deficiency sx? Function of B1? What are symptoms of overtreating Vit B1?
Best PATty + CoRoNA beer
Def: Wernicke-Korsakoff encephalopathy (CoRoNA beer) (confusion, nystagmus, ataxia, , dry beri-beri (polyneuropathy, muscle wasting), wet beri-beri (dilated cardiomyopathy, edema)
Function: Coenzyme for Best PATty (Branched chain ketoacid dehydrogenase, Pyruvate dehydrogenase in TCA cycle, A-ketoglutarate dehydrogenase in TCA cycle, Transketolase in HMP shunt)
Overtreat: -
Lesch-Nyhan syndrome
- Pathophysio?
- 7 key features
- HGPRT deficiency – > PRPP low activity
- Megaloblastic anemia (due to poor purine salvage)
X-linked recessive
HGPRT Hyperuricemia Gout Pissed off (aggression, self mutilation) Red crystals in urine Tense muscles (dystonia)
Which cells increases glucose uptake when given insulin?
SGLT 4: striated muscles, adipocytes
List out 4 features of McCune Albright syndrome
Due to mosaicism mutation in Gs-protein
unilateral café-aulait spots with ragged edges, polyostotic fibrous dysplasia (bone replaced by collagen and fibroblasts),and at least one endocrinopathy
Glycogen storage disease
List down 6 of them:
1. Features
2. Deficient enzymes
Von Gierke: “von geek” fat, no muscle, big stomach, big butt., gout” hypoglycemia, high blood lactate [glucose 6 phosphatase]
Pompe: “Pump”: normal blood glucose, pumps trashed (heart, liver, muscle) [lysosomal a-1,4-glucosidase]
Cori: “lesser von Gierke” with normal blood lactate+ cardiomyopathy *limit dextrin-like structures in cytosol” [a-1,6-glucosidase]
Andersen: similar with pompe but +hypoglycemia [branching enzyme]
McArdle: high glycogen in muscle (myoglobulinuria, muscle cramps, hyperkalemia), second wind phenomenon [skeletal muscle glycogen phophorylase]
How does absorption of fat soluble vitamins occur?
Through micelle secreted by bile salts at ileum
Causes of cobalamin deficiency
name 2 specific lab results
Vegan diet, terminal ileum pathology,
Diphyllobothrium latum.
pernicious anemia
gastrectomy
high serum homocysteine AND methymalonic acid
Causes of folate deficiency
Diet
Methotrexate (DFHR inhibitor)
5-FU: Thymidylate synthase inhibitor
What are the differences between IGF-1 and GH? (2)
- GH increase insulin resistance, but IGF-1 decreases insulin resistance.
- GH is nonreceptor tyrosine kinase, but IGF-1 is receptor tyrosine kinase
How to estimate level of PCO2 based on the level of bicarbonate
Winter’s formula: (1.5x [bicarbonate])+8
Which enzymes inhibited by Amanita phalloides (death cap mushroom)? Sx?
RNA polymerase 2
Dysentery, hepatotoxicity
