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Comments ...

 +2  (nbme24#2)

Ornithine transcarbamolase deficiency. Carbomoyl phosphate (CP) is shunted to pyrimidine synthesis --> increased orotic acid production (CPS you would not see orotic acidemia). Urea cycle also inhibited --> increased ammonia levels.


 +1  (nbme24#16)

Kidney makes 1-25, hydroxy vitamin D. (calcitriol) 25-hydroxy vit D (calcidiol) is made in the liver, and hypoparathyroidism would not decrease its levels as it acts to increase 1-alpha hydroxylase in the kidney to increase calcitriol concentrations --> Ca/phosphate reabsorption from the bone and small intestine.

queezyfish  I'm confused about the phosphate level in questions like these. Decreased calcitriol would decrease phosphate absorption while PTH decrease lowers phosphate excretion. I'm assuming that the PTH decrease has the greater effect with serum phosphate levels?
mousie  PTH = "Phosphate trashing hormone" if PTH is high Phosphate must be low - they are always opposite (unless d/t renal failure then Phosphate will be high - kidneys will be unable to get rid of phosphate) So low Ca d/t low PTH does not effect 25 H. Vit D ... only 1,25 H Vit D (active Calcitriol)?
haliburton  Clarification because I was confused: PTH stimulates kidney to produce 1,25-(OH)2 D3 (calcitriol) via 1α-hydroxylase in proximal convoluted tubule. Therefore, without parathyroid glands, low PTH, 25,D is not converted and therefore not down (normal or up). phosphate "trashed" by PTH as eloquently stated above.
zbird  Here the primary defect is high up from the parathyroid gland, there is decresed or no PTH which normally trashes phosphate but not in this case so serum PHOSPHATE INCREASES and the serum calcium is low because PTH should have prevented the urine calcium so there is calciuria and no resorption from bone-LOW CALCIUM, Vitamin-D is independent of PTH so stays NORMAL

 +1  (nbme24#5)

My understanding is that if parents are unrelated by blood to those affected, we assume that they are not carriers (in the recessive case). Therefore, if we have a male father affected with x-linked recessive married to a non-carrier, there's no way any of his offspring would be affected.

"If one parent is not a carrier, then a child can only inherit a disease allele from the other parent. In these problems, we can assume that any individual marrying into the family is not a carrier." https://www.cs.cmu.edu/~genetics/units/instructions/instructions-CP.pdf





Subcomments ...

Can someone explain why does this patient have hypokalemia?

colonelred_  Catecholamines activate the Na/K pump, which will drive K inside. +5  
trazabone  Read online that catachelamines are released following tonic clonic seizures. Besides that, BP of 180/100 could indicate that catecholamines are circulating. +  
fulminant_life  This mechanism is why giving albuterol for hyperkalemia works +3  
nbmehelp  Why does this guy have increased catecholamines tho +  
johnson  His SNS activity is seriously increased --> increased catecholamines. +  
nbmehelp  Why is his SNS activity increased? Is the BP literally the only hint? +  
youssefa  Alcohol withdrawal creates a hyper- catecholaminergic state + Seizures do that as well. +1  
water  My best guess is that withdrawal puts the body in a state of stress (same for seizures) and with stress you have release of catecholamine which we'll see in the BP and the hypokalemia. +