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****TYPED PLEASE, NOT HAND WRITTEN*********

****TYPED PLEASE, NOT HAND WRITTEN*********

Case 1: A newborn girl appeared normal at birth, but within 24 hours she developed lethargy, hypothermia, and apnea. The attending physician suspects a metabolic disorder and orders a panel of labs Which diagnostic would be the best to distinguish between a urea cycle disorder and a disorder in B -oxidation? (Please discuss your rationale for this choice) Blood glucose Urinary acids Serum fatty acids d. a. b. C. Plasma glutamine A full blood work up was ordered for this female and the data is presented below. UNE Online Case connections was elevated at 314 ug/dl (normal range 17-80) and rapidly rose to The initial blood amm 600 ug/dl. The urine orotic acid level was markedly elevated at 473 umol/L creatinine (nl 0-3) The plasma citrulline level was normal at 10 uM/L (nl 12-55) In this patient where orotic acid levels are elevated, list one urea cycle enzyme that is most likely deficient and one urea cycle enzyme that is least likely to be impaired. (Be sure to justify your answers) Case 3: A 47-year old man presents with severe pain in his right great toe. He is unable to bear weight on his right foot and there was no apparent trauma. He reports the pain started last night and continued to increase in severity. Based on his physical exam and laboratory findings he is diagnosed with gout. Gout can be caused by several different mechanisms and blood samples are drawn and urinalysis is performed. The results from this individual are listed below. Plasma Urate Urinary Uric Acid Patient (mg/100 ml) (mg/24 hr) Normal

Answer 1

In this case, the root cause of gout is: 3. decreased urinary excretion of uric acid.

High plasma uric acid (UA) is a precipitating factor for gout and renal calculi as well as a strong risk factor for Metabolic Syndrome and cardiovascular disease. The main causes for higher plasma UA are either lower excretion, higher synthesis or both. UA contributes to > 50% of the antioxidant capacity of the blood. It is characterized by a high uric acid level in the blood, causing deposition of urate crystals in the joints and kidneys.  In normal humans, uric acid is excreted in the urine. However, uric acid excretion may be impaired by kidney disease, leading to hyperuricemia. Other less common causes are a diet high in purine-containing items or your body producing too much uric acid.

In humans, purines are metabolized into uric acid which is then excreted in the urine. Consumption of some types of purine-rich foods, particularly meat and seafood, increases gout risk. Gout may arise from regular consumption of meats, such as liver, kidney, and sweetbreads, and certain types of seafood including anchovies, herring, sardines, mussels, scallops, trout, haddock, mackerel and tuna. Moderate intake of purine-rich vegetables, however, is not associated with an increased risk of gout.

Foods and drinks that often trigger gout attacks include organ meats, game meats, some types of fish, fruit juice, sugary sodas and alcohol. On the other hand, fruits, vegetables, whole grains, soy products and low-fat dairy products may help prevent gout attacks by lowering uric acid levels.  Drinking too many changes how much uric acid is in the body, with beer and liquor is more likely to trigger the first acute gout attack than some other forms of alcohol, like wine. .. Avoid alcohol during gout attacks, and limit alcohol, especially beer, between attacks. Sugary foods and beverages.