DM Week 4/Review for Exam Flashcards
A 4 year old boy with acute lymphoblastic leukemia (ALL) is prescribed an enzyme transfusion as part of his treatment regimen. Which of the following enzymes was most likely given to this patient?
A. Glutaminase
B. Glutamine synthetase
C. Asparaginase
D. Glutamate dehydrogenase
E. Aspartate transaminase
F. Alanine transaminase
C. Asparaginase. This reduces the asparagine levels to starve the tumor
Mechanism of fructose transport
Facilitated transport with the gradient and GLUT-5 in the small instestine
Nearly all binding of cobalamin (vitamin B12) to intrinsic factor occurs in which organs?
Duodenum
Absorption of fat-soluble vitamins requires which of the following?
A. intrinsic factor
B. chymotrypsin
C. pancreatic lipase
D. pancreatic amylase
E. secretin
C. Pancreatic lipase
Glucagon activates glycogen degradation and gluconeogenesis in the liver. What is the action of cortisol?
Activation of PEP carboxykinase by enzyme induction.
Poisoning with ethylene glycol is due to:
Highly toxic glycoaldehyde which leads to glycolic acid
Poisoning with moonshine is due to:
Methanol Toxicity, Highly toxic formaldehyde inside the cells of liver, neurons and retina. Causes blindness due to formic acid.
Mechanism of action of disulfiram
Inhibits aldehyde dehydrogenase
What are two treatment options of acquired hyperammonemia?
-Lactulose
-Neomycin (antibiotic treatment)
-Low protein/high carb diet (less N ingested)
What is the synthetic form of BH4?
Sapropterin
Symptoms of Maternal PKU
Similar to fetal alcohol syndrome:
-Microcephaly
-Severe neurological problems
-Congenital heart defects
-Facial dysmorphology: long philtrum, epicanthal folds, micrognathia, short nose, microphthalmia flat midface
Embryological origin of the faliciform ligament
Ventral Mesentery
Embryological origin of the spleen
Dorsal Mesentery
What can be given to prevent toxic accumulation of metabolites in Tyrosinemia Type 1?
Nitisinone: inhibits 4-OH-phenylpyruvate dioxygenase (PDO)
Manifestations include:
-Liver failure
-Renal Failure
-Cabbage like odor of the urine
Tyrosinosis (Tyrosinemia Type I)
-Deficiency of fumarylacetoacetate hydrolase
Therapy that can be beneficial for disorder involving increased methionine synthesis:
Homocysteinuria:
-Pyridoxine (Vitamin B6)
-Restrict dietary protein
-Supplement with methionine free medical food
-Oral Betaine-HCl
Reabsorption defect in neutral amino acids
Hartnup Disease: low tryptophan concentrations
How is trypsinogen activated?
It is released by the pancreas and is cleaved to trypsin only after it reaches the lumen of the duodenum by the activated enteropeptidase
How are amino acids absorbed? Through which mechanism?
The uptake of dietary amino acids is mainly performed by secondary active transport with cotransport of sodium ions.
The activation of pepsinogen to pepsin is dependent on what?
An acidic pH
Substrates needed for heme synthesis:
Succinyl CoA + Glycine
Acetaminophen degrades into which 2 products?
Acetaminophen glucuronate (urine)
Acetaminophen sulfate (urine)
Hepatic steatosis (fatty change) is a consequence of chronic alcohol intake due to:
Acetaldehyde Toxicity–the high levels of cytosolic NADH lead to TAG synthesis and the release of VLDL is inhibited, lipid droplets accumulate inside hepatocytes. **Tubulins are damaged.
ALT»>AST levels
Acute liver disease
AST»>ALT levels
Chronic liver disease due to chronic alcoholic cirrhosis (2:1 or higher)
Risk factor for pyridoxine deficiency
Isoniazid therapy (anti-tuberculosis drug)
Oral rehydration therapy with glucose targets which transporters for the treatment of osmotic diarrhea?
SGLT1 Transporter in the GIT
-Secondary active transporter
Refsum disease causes an accumulation of which metabolite?
Phytanic acid
Organic Aciduria involves which amino acids?
Valine and odd chain fatty acids
-Symptoms include:
Hypoglycemia, metabolic keto acidosis, problems with the conversion of propionyl CoA to methylmalonyl CoA mutase
Acute phase proteins
Stimulated by the liver after inflammation: c-reactive protein, alpha-1-antitrypsin, ceruloplasmin, haptoglobin
Inherited defect in dietary copper absorption
Menkes syndrome
In iron overload, does total binding capacity (TIBC) increase or decrease?
Decreases
Clinical Correlate: Hemochromatosis
In iron deficiency anemia, does total binding capacity (TIBC) increase or decrease?
Increases
Microcytic anemia is seen in which conditions?
Iron Deficiency
Pyridoxine deficiency
Copper Deficiency
**Due to reduced heme synthesis
Macrocytic anemia is seen in which conditions?
Vitamin B12
Folic acid deficiency
**Due to reduced cell division
Mucopolysaccharidoses
Hunter and Hurler Syndromes
Iduronidase deficiency
Hurler Syndrome
Accumulation of dermatan sulfate and heparan sulfate
Hurler syndrome
Iduronate sulfatase deficiency
Hunter Syndrome
beta-hexosaminidase A deficiency
Tay-Sachs
Accumulation of gangliosides
Tay-Sachs
Onion shell inclusions in lysosomes, cherry-red spot on macula
Tay-Sachs
beta-glucosidase deficiency
Gaucher disease
Bone crisis, distal femur in the shape of an erlenmeyer flask, crumpled tissue paper appearance of foam cells
Gaucher disease
deficiency of alpha-galactosidase
Fabry disease
Accumulation of globoside (ceramide trihexoside)
Fabry disease
Skin rash with “bathing trunk distribution” and peripheral neuropathy
Fabry disease
Deficiency of sphingomyelinase
Niemann-Pick disease
Accumulation of sphingomyelin
Niemann-Pick disease
Hepatomegaly and cherry-red spot on macula, foamy cell appearance
Niemann-Pick disease
Deficiency of Aryl sulfatase A
Metachromatic leukodystrophy
Accumulation of sulfatide
Metachromatic leukodystrophy
Progressive paralysis and demyelination
Metachromatic leukodystrophy
Deficiency of lysosomal acid maltase (alpha 1-4 glucosidase)
Pompe disease
Deficiency of N-acetylglucosamine 1-phosphate transferase
I-cell disease
A man has a history of peptic ulcer disease. A gastroscopy shows a perforating ulcer in the posterior wall of the stomach. Which of the following locations will peritonitis most likely develop initially?
Omental bursa (lesser sac)
A CT scan shows part of the bowel is being compressed between the abdominal aorta and superior mesenteric artery. Diagnosis of “nutcracker syndrome” is made. Which of the following intestinal structures is most likely being compressed?
Third part of the duodenum
Which artery would most likely provide collateral supply to the descending colon?
Middle colic
Which of the following anatomic features are the most useful to distinguish the jejunum from the ileum?
Jejunum has less mesenteric fat compared with the ileum
Massive bleeding from the descending colon. What is the most likely source of the hemorrhage?
Left colic artery (branch of the inferior mesenteric artery)
A 4 month old baby girl is brought to the ED. X ray of abdomen shows a posterolateral defect of the diaphragm and abdominal contents in the left pleural cavity. Which of the following is the most likely cause of this defect?
Failure of pleuroperitoneal fold to close
Which vessels will most likely provide collateral circulation between the celiac trunk and superior mesenteric artery?
Superior and inferior pancreaticoduodenal
In which of the following locations will blood be detected with an ultrasound exam if the patient stands up (male)?
Rectovesical space
Which lymph node initially drains the pyloric antrum?
Celiac nodes
A diagnosis of esophageal varices is made. Which surgical anastomosis is most commonly used to relieve these symptoms?
Splenic to left renal vein (portal to caval system)
Which of the following structures would most likely be identified and ligated within the triangle of Calot?
Cystic Artery
Ethylene glycol poisoning can cause the accumulation of which toxic metabolite?
Oxalate
Clinical features of Anderson disease
Hepatomegaly and cirrhosis
Glycogen storage disease that can lead to muscular dystrophy later in life
Cori disease
Central role of glucose-6-phosphate in glycogen metabolism and glycolysis
Used to form glucose 1 phosphate during glycogen synthesis
During strenuous activity, how is glycogen phosphorylase kinase activated?
By calcium ions
What is the regulatory enzyme of ketogenesis?
Mitochondrial HMG CoA synthase
Are weak acids and reduce serum bicarbonate levels during fasting
3-hydroxybutyrate and acetoacetate
Which of the following substances has a paracrine action in producing smooth muscle relaxation?
A. Secretin
B. Gastrin
C. CCK
D. VIP
E. Gastric Inhibitory peptide
D. VIP
What are the boundaries of the triangle of Calot?
Inferior border of the left ventricle (LV), cystic duct, common hepatic duct
Absorption of fat soluble vitamins requires which of the following?
Pancreatic lipase
