Metabolism — Flashcards

12 y/o male is evaluated for ataxia accompanied by episodic erythematous and pruritic skin lesions and loose stools. -Labs: Loss of neural aromatic amino acids in the urine. -This patient's symptoms would most likely respond to what supplements?

76 y/o man comes with excessive fatigue and altered mental status. -The patient has long history of diabetes mellitus. -Physical Exam: Dry mouth, cracked lips, severe cataracts formation. -Lab test: Glucose 750 mg/dL & normal ketone level. -Pathophysiology of his cataracts formation involves certain enzymes within lens. -An enzyme called aldose reductase produces sorbitol, a susbtance that connot readily exit the lens cells. -What is the most likely end product of sorbitol metabolism in the lens of healthy individuals?

A 6 month old girl comes with mother due to lack of growth despite feeding. -Physical exam: Hepatomegaly, hypotonia, height & weight below the 10th percentile. -Lab: Hypoglycemia, ketoacidosis -Liver biopsy: hepatic fibrosis without fat accumulation. -Which enzymes is most likely deficient in this patient?

The following supplements are useful in what disease or mechanism? -Arginine -Cobalamin -Pyridoxine -Tetrahydrobiopterin -Thiamine

what are the followings in association with 2,6 bisphosphate? -Acetyl COA ---> Fatty acids -Alanine ---> Glucose -Fructose-6-phophate ---> fructose-1,6-bisphosphate -Glucose----> glycogen -NAD ---> NADH

A 5 day old newborn comes with multiple episodes of emesis. -Vital sign: tachycardia, tachypnea, and hypertension -Physical Exam: icteric lethargic baby with a sunken fontanelle, dry mucous membranes, & hepatomegaly. -Serum Studies: hypoglycemia & high Transaminases -Arterial blood culture: gram negative rods. -Which of the following steps in metabolism is most likely impaired in this patient?

A 17 y/o boy with type 1 diabetes melitus is found unresponsive at home. -Glucose fingerstick: 32 -Administration of glucose was injected by paramedics. -Glucose binds to a transmembrane receptor in hepatocytes, which promotes binding of intracellular GTP to a specific receptor-associated protein. -It leads to rapid release of glucose in the blood. -Which of the following is the most likely mediator responsible for these effects? a.) cGMP dependent protein kinase b.) Janus tyrosine kinase c.) phosphodiesterase d.) Protein kinase A e.) Tyrosine specific protein kinase

What are the following in relation to glycogen storage diseae? -Acid maltase deficiency -Debranching enzymes -Glucose 6-phosphatase -Liver glycogen phosphorylase -Muscle glycogen phosphorylase -Pyruvate kinase

6 month old full term boy comes with lethargy and vomiting. -Patient was breastfed exclusively until 2 days ago when homemade purred food was added to his diet. -Serum glucose: 30 mg/dL. -Dx: confirms aldolase B deficiency. What should be removed from this patient's diet?

12 y/o patient present with severe chest pain. -He has had intermittent substernal chest pain for past few months, occurs after heavy activity. -BP: 130/80   Pulse: 132/min     RR: 24/min -Physical exam: Anxious appearing boy with rapid but regular pulse. -Troponin is elevated. ECG reveals ST segment elevations in leads II, III, & aVF. -Further lab results: Increase serum methionine level. -Which amino acids is most likely essential in this patient?