De-liver-y, not DiGiorno
Aside from hepatitis, liver cirrhosis is most commonly a complication of this chronic condition, also a common cause of vitamin B1 deficiency
What is alcohol use disorder?
The first step in glycolysis is catalyzed by two different enzymes depending on the location in the body. This isozyme has a lower Vmax and lower Km between the two and is primarily found in this/these tissue(s)
What is hexokinase, all extrahepatic cells?
Generally speaking, medications ending in -olol (i.e. metoprolol) usually fall under this general classification of ANS medications
What are beta blockers?
In-frame deletion of a single amino acid in a transmembrane protein, abnormal chloride transport, abnormal Na transport via ENaC, respiratory and pancreatic symptoms, and absent vas deferens in males are all characteristic of this incredibly high-yield disease
What is cystic fibrosis?
The liver and kidneys are both important intermediate organs required for the processing of this vitamin into its active form
What is vitamin D?
When administering medications via this route, bioavailability is always 1(100%)
What is IV administration?
Liver function assessment typically relies on these two enzymes, where elevation usually indicates non-specific liver damage
What are AST and ALT?
Bonus(100): What are the normal ranges for each, approximately?
Also referred to as favism, this metabolic pathology results in reduced ability to synthesize nicotinamide adenine dinucleotide phosphate in the HMP shunt
What is G6PD deficiency?
A patient's file states that she was prescribed atorvastatin by her primary care physician. She was likely prescribed this medication because of this finding on a blood test. This medication targets this enzyme. (Name the blood test result and enzyme)
What is high LDL to inhibit HMG-CoA reductase?
Among the glycogen storage diseases, this condition is the only one characterized by elevated lactate
What is VonGierke?
These three vitamin supplements are recommended for prenatal, post-birth, and early feeding stages of childcare. Name the vitamin and reason for their supplementation.
What is:
B9- prenatal, prevent neural tube defects
K- post-delivery, prevent intracranial hemorrhage
D- breast feeding, absent in breast milk
A hemoglobin concentration of 9.8 and an MCV of 113 indicates this pathological finding
What is megaloblastic/macrocytic anemia?
You and I can break down glycogen via two main routes: the main route uses glycogen phosphorylase and debranching enzymes, and the alternate route uses this organelle-specific enzyme that "floppy babies" with an autosomal recessively inherited disease lack
What is Pompe disease?
The dehydrogenase complexes are dependent on these cofactors(include the relevant derivatives)
B1- Thiamin -> TPP
B2- Riboflavin -> FAD
B3- Niacin -> NAD
B5- Pantothenic acid -> enzyme CoA
Lipoic acid
This antineoplastic drug is used to inhibit ribonucleotide reductase in the pyrimidine synthesis pathway
What is hydroxyurea?
Depletion of this cofactor in the phenylalaine pathway results in malignant PKU
What is tetrahydrobiopterin(BH4)?
Reduced norepinephrine synthesis and iron-deficiency anemia are uncommon symptoms of this vitamin deficiency
What is vitamin C deficiency?
This proto-oncogene encodes for a serine/threonine kinase that most commonly presents with melanoma, followed closed by Non-Hodgkin Lymphoma
What is BRAF?
In Wilson Disease, hematological investigation would reveal decreased levels of this copper transport protein due dysfunction of the ATP7B protein in the Golgi body of hepatocytes
What is ceruloplasmin?
These two metabolites, one in fructose metabolism and one in galactose metabolism, are osmotically active and most commonly results in cataracts but can also lead to edema
What are sorbitol and galactitol?
These medications prevent the degradation of hepatic surface proteins that promote endocytosis of LDL, reducing circulation of cholesterol and is used in management of hypercholesterolemia. An example is evolocumab.
What are PCSK9 inhibitors?
A patient presents to the ED with red discoloration of the skin, difficulty breathing, and tachycardia. The patient reports that he was burning some assorted plastic items for disposal when he started feeling light-headed. His symptoms are most likely caused by this nitrogen-containing compound.
What is cyanide?
Vitamin B12 deficiency is notable for causing CNS symptoms because of impaired synthesis of this fatty-acid derivative that surrounds neuronal axons
What is myelin?
Fatty acid metabolism is composed of both synthesis and degradation. Each phase has a rate-limiting enzyme, please name both and whether it's in the synthesis or degradation pathway
What is:
Synthesis- acetyl-CoA carboxylase(ACC)
Degradation- carnitine acyl-transferase(CAT1) or carnitine-palmitoyltransferase(CPT1)
Several proteins fall under this superfamily of heme-containing oxidative enzymes that participate in phase I of drug metabolism in the liver
What is cytochrome P450?
Chronic inflammatory conditions are known to cause iron deficiency anemia because of interleukin-6 secretion causing hyperactivity of this enzyme which normally degrades an intestinal iron transport protein
What is hepcidin?
A 34-year-old patient presents with typical symptoms of anticholinergic overdose, as well as delirium, confusion, hallucinations, and agitation. This medication was initiated because, unlike other similar medications, it can cross the blood brain barrier
What is physotigmine?
A patient that presents with the iconic triad of anhidrosis, angiokeratomas, and corneal clouding most likely has this disease
What is Fabry disease?
Bonus(250): what metabolite accumulates in this condition?
Name all of the main vitamins and their chemical names (Get at least 10 of them correct for half points)
A-retinol, B1-thiamine, B2-riboflavin, B3-niacin, B5- pantothenic acid, B6-pyridoxine, B7-biotin, B9-folate, B12-cobalamin, C-ascorbic acid, D-calciferol(D3-ergocalciferol, D4-cholecalciferol), E-tocopherol/tocotrienol, K-phytomenadione
Name the diagnosis based on what your patient smells like:
-Garlic
-Musty
-Sweet(urine)
-Almonds
-Fruity
In order: arsenic poisoning, PKU(phenol ketones), maple syrup urine disease, cyanide poisoning, and ketoacidosis(acetone)