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FoundSci I Unit 3 > Clinical Correlations > Flashcards

Clinical Correlations Flashcards

1
Q

Errors during these processes can lead to dysfunctional proteins

A

Replication

Transcription

Translation

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2
Q

Mode of action of Streptomycin

A

mRNA is misread so no inititiation complex is made

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3
Q

Mode of action of tetracycline

A

Inhibition of binding of aminoacyl-tRNA to the A site

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4
Q

What is the mode of action of chloramphenicol?

A

Inhibition of peptidyl transferase activity so elongation is affected

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5
Q

Mode of action of Erythromycin

A

Inhibition of translocation of the peptidyl-tRNA to the P site

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6
Q

Mode of action of neomycin/gentamycin

A

Mistranslation of the mRNA codon so incorrect aa-tRNAs incorporated and effects initiation

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7
Q

What is gray baby syndrome?

A

An adverse reaction to chloramphenicol where mitochondrial ribosomes are mistakenly attacked over the procaryotic ribosomes. Leads to ashen grey skin, blue lips, and blue nail beds.

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8
Q

What does diptheria toxin target and what are the symptoms?

A

Targets eukaryotic elongation factor 2 (eEF-2) by ADP-ribosylation

Lesions in upper respiratory tract cause necrotic injury to epithelial cells

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9
Q

Targets 28S rRNA and cleaves adenine base from it. Cleavage impacts N-glycosidase activity and a loss of binding of elongation factors to large ribosomal subunit. Protein synthesis is off

A

Ricin

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10
Q

Disorder in collagen processing. Mutations in ATPase copper transporting gene and impacts lysine hydroxylase. Patients present with depigmented hair and hypotonia

A

Menkes Disease

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11
Q

I-cell Disease

A

Transfer of a phosphate to mannose during post translational modification of lysosomal enzymes is impaired. Lysosomal enzymes are unable to enter the lysosome and are secreted in serum. Lysosomes are dysfunctional

Patients present with inclusion bodies in fibroblasts, coarse facial features, and bone fractures and slow motor abilities

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12
Q

Cystic Fibrosis

A

Mutations in gene encoding chloride channel membrane protein (CFTR) which causes disorder in N-linked glycosylation and misfolding of CFTR.

Stickiness of fluids. Symptoms are cough, repeated lung infections, and damaged pancreas

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13
Q

Alpha 1 Antitrypsin Deficiency

A

Alpha 1 Antitrypsin is expressed in liver. Deficiency results in mutations of gene encoding alpha 1 antitrypsin protein, which causes misfolding of the protein and aggregations of it in the ER. This damages the liver cell. Parents with M allele do not develop the disease

Symptoms are liver cyrrhosis and chronic pulmonary disease due to lack of alpha1-antitrypsin

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14
Q

Alcohol Tolerance

A

Prolonged alcohol or barbiturate use lead to increase of SER which means more enzymes and faster metabolism. Need more alcohol or drugs to get same effect

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15
Q

Proton Leak

A

Protons re-enter mitochondrial matrix without contributing to ATP synthesis. In most cells it is problematic and wastes energy and creates free radicals (ROS) that damage mitochondria and cell.

Intentional proton leak in brown fat cells, mediated by uncoupling protein called thermogenin to drive non-shivering thermogenesis

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16
Q

Tay-Sachs Disease

A

Lysosomal Storage Disease. Enzyme required for break down of gangliosides is malformed so gangliosides accumulate in CNS neurons.

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17
Q

Zellweger Syndrome

A

Mutation in gene encoding receptor for peroxisomal targeting signal. Shipping label to peroxisome is correct but receptor in peroxisomal membrane can’t read it.

Results in severe neurologic dysfunction and craniofacial abnormalities and liver dysfunction

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18
Q

Patient presents with pellagra (dermatitis, diarrhea, dementia) and does not have eat beans, milk, eggs, or enriched flour. Patient also has alcohol use disorder. What are they deficient in?

A

Niacin - Vitamin B3

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19
Q

Patient presents with sore mouth. Smooth, swollen, magenta tonuge with stomatitis and cheilosis. What are they deficient in?

A

Riboflavin - Vitamin B2

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20
Q

Hemoglobin A1c

A

Early glycation product. Measures the amount of glucose attached to hemoglobin in red blood cells.

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21
Q

Why can bacteria digest polysaccharides like cellulose?

A

Bacteria can break the Beta 1,4 linked glucose

22
Q

Lactose Intolerance

A

Lactase non-persistance.

Patient will present with recurring abdominal pain for duration of 4 months and occurs when they eat at favorite ice cream shop. After lactose ingestion, pt does not have rise in blood sugar, H2 detectable in breath, and they have acidic stool

23
Q

Raffinose

A

Rich in legumes. Has alpha 1,6 galactosidic bond and can’t be digested. Supplements for galactosidase can help

24
Q

How does a patient present with a glycolytic disorder?

A

Hemolytic anemia

Jaundice

Enlarged spleen

Rare congenital disorders

Occurs because red blood cells rely exclusively on glycolysis

25
Q

Mutations in genes for enzymes specialized for glycolytic degradation

A

Inherited Errors of Metabolism

Disorder present at birth and manifest when offending substance ingested. IEM impede development and need to be addressed early to prevent disability

26
Q

Essential Fructosuria

A

Fructokinase deficiency, fructose excreted in urine. Benign

27
Q

Hereditary Fructose Intolerance

A

Aldolase B deficiency

Fructose-phosphate accumulates in liver

Depletes liver phosphate pools and impairs glycogen mobilization - hypoglycemia

Liver damaged with accumulation of glycogen and lack of phosphate for synthesis of ATP - jaundice

Treat by avoiding fructose and sucrose

28
Q

Galactosemia

A

Galactose Metabolism Disorder

Many types
- Galactose 1 phophate uridyl transferase deficiency
- UDP galactose epimerase deficiency
- Galactokinase deficiency

Affected newborns present with milk intolerance and signs of liver failure (jaundice)

29
Q

Thiamine deficiency

A

Common in alcoholic patients because alcoholism inhibits thiamine uptake and conversion to TPP.

30
Q

Beri Beri

A

Thiamine Deficiency

Patients present with pain and paresthesia. Wet form present with symptoms of congestive heart failure. Dry form presents with symmetric peripheral neuropathy

31
Q

Wernicke Encephalopathy

A

Thiamine deficiency in chronic alcoholism patient.

CNS impacted via mental impairment, cerebellar ataxia, horizontal nystagmus, and opthalmoplegia.

Treat with administration of thiamine.

Can progress to Wernicke-Korsakoff syndrome

32
Q

Pyruvate dehydrogenase deficiency

A

Patient present with unexplained metabolic acidosis. Homozygous mutation in PDHX gene which encodes the E3 binding protein. The binding protein is important for the function of PDH.

Patient placed on high fat diet and limit carbohydrates

Most common mutations impact pyruvate decarboxylase (E1)

33
Q

Fumarase deficiency

A

Elevated urinary fumarate because fumarase converts fumarate to malate.

Very rare

34
Q

DNP

A

Potent uncoupling agent used for dieting. Works by collapsing proton gradient and bypassing ATP synthase.

35
Q

What are inhibitors of electron transport chain?

A

Anoxia - no oxygen, no oxidative phosphorylation

Rotenone - inhibits complex I so e- can be moved from NADH to coenzyme Q

Antimycin A - inhibits complex III so electrons not transferred from coenzyme Q to cytochrome c

Cyanide - Inhibits complex IV and binds heme iron. Blocks transfer of electrons from cytochrome c to oxygen

36
Q

Mitochondrial Encephalomyopathies

A

Defects in oxidative phosphorylation

MERRF - Associated with ragged red fibers. Due to point mutations in mitochondrial tRNA for lysine

MELAS - Mutation in mitochondrial gene encoding tRNA for leucine.

Combined oxidative phosphorylation deficiency 1 - mutation in mitochondrial elongation factor 1 gene

Combined oxidative phosphorylation deficiency 2 - mutation in mitochondrial ribosomal protein S16

37
Q

Leber hereditary optic neuropathy

A

Mutation in genes that affect complex I of respiratory chain

Optic nerve dies and pt has sudden onset loss of vision.

38
Q

Gluconeogenesis Disorder

A

Example: Fructose 1,6 bisphosphatase deficiency

Patient presents with fasting hypoglycemia

Metabolic acidosis

Abnormal glucagon response - no sign. increase in blood glucose

Liver stores fat instead of carbs

39
Q

How will a patient with a Pentose Phosphate Pathway Disorder present?

A

Hemolytic anemia - red blood cells lack NADPH

Jaundice

Enlarged spleen

40
Q

Glucose 6-Phosphate Dehydrogenase Deficiency

A

Most common in Mediterranean and African Americans. Affects more males (X-linked)

Depletes RBCs of NADPH which lowers radical stress resistance.

Hemolytic anemia

41
Q

Glycogen Storage Diseases

A

Liver and muscle can have glycogen phosphorylase defects

Liver can have glucose 6 phosphatase deficiency

All tissues can have alpha-glucosidase defect since all tissues perform autophagy

41
Q

Patient present with muscle pain, fever and dark urine. They have exercise intolerance and muscles show hypertrophy and elevation levels of glycogen and absent glycogen phosphorylase activity. No production of lactate in exercise.

A

Patient cannot mobilize intracellular glucose reserves during exercise.

42
Q

Glycogen Storage Disease affecting the liver and is glucose 6-phosphatase deficiency

A

Type 1: Von Gierke

Patient presents with fasting hypoglycemia and enlarged liver. Glucose 6-phosphate builds up,

43
Q

glycogen storage disease affecting all tissues. Involves acid maltase (lysosomal alpha glucosidase deficiency)

A

Type II: Pompe

Lysosomal storage disease that causes enlarged liver and heart.

44
Q

Glycogen Storage Disease affecting muscle only. Involves muscle glycogen phosphorylase deficiency.

A

Type V: McArdle

Muscle unable to mobilize glycogen and results in exercise intolerance. Muscle cramps, fatigue, and burgundy urine.

45
Q

What metabolic reactions occur with epinephrine?

A

Increase muscle ATP production

Signaling through cAMP and calcium

Liver gluconeogenesis and glycogenolysis increases

Muscle glycolysis also increases

46
Q

What metabolic reactions occurs with increased cortisol?

A

Increase glucose supply.

Change gene transcription.

Liver gluconeogenesis and glycogen synthesis increase

Glucose deposition in adipose tissues decreases

47
Q

How does a patient with alcohol use disorder present?

A

Fasting hypoglycemia

Metabolic Acidosis

Fatty liver - impairs uptake and storage of vitamins of carb metabolism (wernicke korsakoff and beri beri)

48
Q

Hunter Syndrome

A

Mucopolysaccharidoses

X-linked disorder and patient presents with skeletal abnoramalities and intellectual disability

49
Q

Hurler-Scheie Syndrome

A

Mucopolysaccharidoses

Elevated urine glycosaminoglycan.

Defective alpha iduronidase enzyme. Inability to degrade dermatan and heparan sulfate. Results in skeletal abnormalities and intellectual disability.

50
Q

Sanfilippo Syndrome

A

Mucopolysaccharidoses

Mild defects

51
Q

What will low UDP-UGT activity result in?

A

Patient will have inability to transfer glucuronic acid which causes buildup of molecules like bilirubin.

Bilirubin UGT defects cause non-hemolytic jaundice

Gilbert Syndrome - most common

Crigler Najjar Syndrome - severe

FoundSci I Unit 3 (13 decks)

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