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Digestive System And Nutrition > Part II Diseases > Flashcards

Part II Diseases Flashcards

1
Q

Fructose 1,6 bisphosphatase deficiency

Symptoms, which pathway is affected, and treatment

A
  • Hypoglycemia, severe lactic acidosis
  • Gluconeogenesis
  • Frequent carb feeding
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2
Q 
Glucokinase deficiency
(What 1 allele KO causes, what 2 allele KO causes, and what activating mutation causes)
A
  1. MODY
  2. Neonatal diabtes
  3. Hyperinsulinemic hypoglycemia
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3
Q

Pyruvate kinase deficiency
What builds up?
What are the symptoms?

A

Glycolytic intermediates like 2,3 BPG

-Hemolytic anemia, burr cells

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4
Q

PDH Deficiency
-how can it happen?
Symptoms
Treatment

A
  • Mercury or arsenic poisoning or thiamine deficiency
  • Acidosis, hyperventilation, muscle/abdominal pain
  • High fat, low carb diet (ketogenic) and dichloroacetate
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5
Q

Hereditary fructose intolerance

-effects

A
  • hypoglycemia, vomiting, jaundice, lactic acidosis.

- glycogen degradation is inhibited because the Pi that should be lost is needed in glycogenolysis

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6
Q

Von Gierke Disease

  • enzyme
  • symptoms
  • treatment
A
  • glucose-6-pptase
  • severe hypoglycemia due to inability to export glucose, hyperuricemia, hyperlipidemia, xanthomas, high lactate
  • frequent feedings and uncooked starch
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7
Q

Cori’s Disease

  • symptoms
  • treatment
A
  • hepatomegaly, hypoglycemia

- high protein diet, frequent feedings

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8
Q

Andersen’s Disease

  • enzyme
  • symptoms
A
  • branching enzyme

- hepatomegaly, cirrhosis, early child death

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9
Q

Her’s Disease

  • enzyme
  • symptoms
A
  • liver glycogen phophorylase

- hepatomegaly + fasting hypoglycemia (but gluconeo still works)

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10
Q

Tauri’s Disease

  • enzyme
  • symptoms
A
  • muscle PFK-1
  • decreased exercise tolerance, myoglobinuria, hemolytic anemia, similar symptoms as McCardles, but Tauri’s patients will have abnormal glucose test
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11
Q

Hurler Disease

  • enzyme
  • symptoms
A
  • Alpha-L-Iurodinase

- hepatosplenomegaly, corneal clouding, developmental delay, thickening of respiratory secretions

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12
Q

Hunter’s Disease

  • enzyme
  • substrate buildup
  • symptoms
A
  • Iduronate sulfatase
  • heparin or dermatan sulfate
  • aggresive behavior, NO CORNEAL CLOUDING
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13
Q

Gaucher’s Disease

  • enzyme
  • intermediate build up
  • symptoms
A
  • Glucocerebrosidase
  • Glucocerebroside
  • bone pain, easy bruising, fatigue, purple spots on extremities, hepatosplenomegaly, pancytopenia, nosebleeds. TISSUE PAPER LOOKING MACROPHAGES FILLED WITH LIPIDS
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14
Q

Tay Sach’s Disease

  • enzyme
  • intermediate build up
  • symptoms
A
  • Hexoaminidase A
  • ganglioside molecules
  • Cherry red macula, NO HSM, neurological defects, onion skin lysosomes
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15
Q

Metachromatic Leukodystrophy

  • enzyme
  • intermediate buildup
  • symptoms
A
  • Arylsulfatase A
  • cerebroside sulfate
  • ataxia, dementia, white matter plaque on MRI
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16
Q

Krabbe Disease

  • enzyme
  • intermediate buildup
  • symptoms
A
  • galactocerebrosidase
  • galactcerebroside
  • neuropathy, optic atrophy, floppy limbs, globoid cells
17
Q

Fabry’s disease

  • enzyme
  • intermediate build up
  • symptoms
A
  • alpha-galactoside
  • trihexosylceremide
  • neuropathy, angiokeratomas
18
Q

Favism

  • class 2 and 3
  • symptoms
A
  • class 3 is moderate, african
  • class 2 is severe, mediterannean
  • heinz bodies, hemolytic anemia
19
Q

Methylmalonyl CoA mutase deficiency

  • error in which pathway
  • other possible cause
  • symptoms
A
  • breakdown of odd-chain FAs
  • B12 deficiency
  • methylmalonyl aciduria, peripheral neuropathy
20
Q

CPT-1 Defect

  • which organ is most affected
  • symptoms
A
  • liver
  • reduced FA oxidation and ketogenesis
  • elevated blood carnitine, hepatometagly, muscle weakness HYPOKETOTIC HYPOGLYCEMIA
21
Q

MCAD Deficiency

-symptoms

A
  • hypoketotic hypoglycemia, presents in infancy. HIgh levels of medium chain FAs, acyl carnitine, and dicarboxylic acids (due to omega oxidation pathway).
  • Hyperammonia
22
Q

Polycystic kidney disease

  • cause
  • symptoms
A
  • renal transporter failure to reabsorb AAs

- high levels of urea and creatinine in blood, cysts in kidney, kidney stones, ammonia toxicity

23
Q

Lesch-Nyhan Syndrome

  • enzyme
  • buildup and pathway blockade
  • symptoms
A
  • HGPRT
  • PRPP buildup and blockage of GMP and IMP salvage
  • because decreased salavage—> increased denovo. Self-harm, dystonia, mood lability, gout. Decreased GTP affects brain.
24
Q

Orotic Aciduria

  • enzyme
  • symptoms
  • pathway involved
  • treatment
A
  • orotate phosphoribosyl transferase or orotidylate decarboxylase
  • megaloblastic anemia, excessive orotate in urine
  • pyrimidine synthesis
  • supplement with uridine to bypass block

Digestive System And Nutrition (11 decks)

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