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DEMS Unit 2 > Metabolism Disorder > Flashcards

Metabolism Disorder Flashcards

1
Q

Glycogen storage disease (GSD)

A

G-6-P deficiency (GSD I)

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2
Q

G-6-P Deficiency General

A
  • Most severe GSD

* Glucose can’t leave liver after gluconeogenesis

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3
Q

G-6-P Deficiency Complication

A
  • Enlarged liver
  • Increased lactate production => lactic acidosis
  • increased fatty acid synthesis => hyper-TGs and hyper-cholesterol
  • increased uric acid
  • short stature, doll-like face
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4
Q

G-6-P Deficiency Presentation

A
  • Early in life

* Severe fasting hypoglycemia within 3-4 hours after meal

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5
Q

G-6-P Deficiency Tx

A

Constant supply oral glucose avoid hypoglycemia

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6
Q

Glycogen synthesis disorder (2)

A
  1. Hepatic Glycogen Synthase Deficiency (GSD 0)

2. Branching Enzyme Deficiency (GSD IV)

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7
Q

Hepatic Glycogen Synthase Deficiency (GSD 0) general

A
  • Cannot make glycogen

=> rely gluconeogenesis for glucose production

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8
Q

Hepatic Glycogen Synthase Deficiency (GSD 0) presentation

A
  • Hyperglycemia after meal
  • Fasting hypoglycemia
  • Increased lactate
  • Severe ketotic hypoglycemia
  • NO liver enlargement!!
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9
Q

Hypoglycemia Symptoms

A
  1. ANS: (due to epineprhine?)
    * Sweating
    * Tachy
    * Weakness
    * Anxiety
  2. Neuroglycopenic symptom:
    * Headache
    * Confusion
    * Slurred speeh
    * Visual change
    * Behaviour change
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10
Q

Hypoglycemia within 4 - 6 hours fasting (4)

A
  1. G-6-P Deficiency
  2. Hyperinsulinism
  3. Cortisol and Growth Hormone deficiency infants
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11
Q

Hepatic Glycogen Synthase Deficiency (GSD 0) Tx

A
  • high protein diet => provide gluconeogenesis substrate

* low GI complex carbs => minimize post-prandial hyperglycemia & hyperlactacidemia

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12
Q

Branching Enzyme Deficiency (GSD IV) general

A

Abnormal glycogen (not branched) accumulate in liver and skeletal muscle

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13
Q

Branching Enzyme Deficiency (GSD IV) complications (4)

A
  1. Progressive liver cirrhosis => transplant by 4-6 yrs
    * Hepatosplenomegaly
  2. Cardiomyopathy
  3. Muscle weakness, hypotonia
  4. Neuropathy
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14
Q

Glycogen Breakdown Disorders (3)

A
  1. Phosphorylase Deficiency (GSD VI)
  2. Phosphorylase Kinase deficiency (GSD IX)
  3. Debranching Enzyme deficiency (GSD III)
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15
Q 
Phosphorylase Deficiency (GSD VI), and
Phosphorylase Kinase deficiency (GSD IX)
A 
Normal: 
* gluconeogenesis
* lipolysis
* fatty acid oxidation
* ketogenesis
=> milder than G6PD
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16
Q 
Phosphorylase Deficiency (GSD VI), and
Phosphorylase Kinase deficiency (GSD IX) presentation
A
  1. Hepatomegaly
  2. Short stature
  3. Mild muscle weakness
  4. Adult fast for 18-24 hours
17
Q 
Phosphorylase Deficiency (GSD VI), and
Phosphorylase Kinase deficiency (GSD IX) Tx
A

Raw cornstarch

18
Q

Debranching enzyme deficiency (GSD III)

A

Defective enzyme => accumulation abnormal glycogen in liver and muscle

19
Q

Debranching enzyme deficiency (GSD III) presentation

A 
Normal:
* lactate
* uric acid
Abnormal:
* hepatomegaly
* hypoglycemia
* myopathy
* short starture
* increase ketones
20
Q

Debranching enzyme deficiency (GSD III) Tx

A
  • continuous glucose, raw cornstarch => prevent hypoglycemia

* high protein diet => help myopathy and growth failure

21
Q

Gluconeogenic disorder (1)

A

Fructose-1,6-bisphosphatase deficiency

22
Q

F-1,6-BPase deficiency

A

Inability to generate glucose via gluconeogenesis

23
Q

F-1,6-BPase deficiency presentation

A
  • Late hypoglycemia: after 18-24 hours fasting
  • NO enlarged liver!
  • Severe lactic acidosis => hyperventilation
  • Increase pyruvate
  • Increase ketonic hypoglycemia
24
Q

Hereditary Fructose Intolerance

A
  • Aldolase defect => accumulation F1P => inhibit glycogenolysis and glyconeogenesis
25
Q

Hereditary Fructose Intolerance presentation

A
  • Symptoms with intro fructose (fruit) in diet
    => n/v, coma
  • Elevated LFTs
26
Q

F-1,6-BPase deficiency Tx

A
  1. Acute: give glucose => will correct lactate

DEMS Unit 2 (6 decks)

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