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3. Metabolism > Large, GSD > Flashcards

Large, GSD Flashcards

1
Q

[Met/GSD]

Name of Type 0 glycogen storage disorder?

A

Glycogen synthase deficiency

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2
Q

[Met/GSD]

Name of Type 1 glycogen storage disorder and its enzyme defect?

A

von Gierke disease
Glucose-6-phosphatase

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3
Q

[Met/GSD]

Name of Type 2 glycogen storage disorder and its enzyme defect?

A

Pompe disease
a-l,4-glucosidase

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4
Q

[Met/GSD]

Name of Type 3 glycogen storage disorder and its enzyme defect?

A

Cori disease
Amylo-l,6-glucosidase (debranching enzyme)

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5
Q

[Met/GSD]

Name of Type 4 glycogen storage disorder and its enzyme defect?

A

Andersen disease
Amylo-(1,4->l,6)-transglycosylase (branching enzyme)

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6
Q

[Met/GSD]

Name of Type 5 glycogen storage disorder and its enzyme defect?

A

McArdle disease
Glycogen phosphorylase

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7
Q

[Met/GSD]

Name of Type 6 glycogen storage disorder and its enzyme defect?

A

Hers disease
Hepatic Glycogen phosphorylase

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8
Q

[Met/GSD]

Name of Type 7 glycogen storage disorder and its enzyme defect?

A

Tarui disease
Phosphofructokinase

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9
Q

[Met/GSD]

Name of Type 8 glycogen storage disorder and its enzyme defect?

A

X-linked phosphorylase kinase deficiency
Phosphorylase kinase

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10
Q

[Met/GSD]

Organ that have enzyme activities of glucose-6-phosphatase Type 1 GSD (von Gierke disease)? (3)

A

Liver
Kidney
Intestinal mucosa

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11
Q

[Met/GSD]

Subtypes of Type 1 GSD (von Gierke disease)?

A

1) Type la—defect in the glucose-6-phosphatase enzyme
2) Type lb—defect in the translocase that transports glucose-6-phosphate across the cell membrane

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12
Q

[Met/GSD]

Characteristics of Type 1b GSD (von Gierke disease) compared to Type 1a GSD? (2)

A
  1. Recurrent bacterial infections due to neutropenia and impaired neutrophil function
  2. Oral and intestinal mucosa ulcers
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13
Q

[Met/GSD]

Glycogen storage disease included in newborn screening?

A

Pompe disease (Type 2 glycogen storage disorder)

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14
Q

[Met/GSD]

Usual initial presentation of Type 1 glycogen storage disease (von Gierke disease)? (6)
- Age of onset
- Presentation (5)

A
  1. 3-4 months of age
  2. Doll-like facies
  3. FTT, short stature with thin extremities
  4. Protuberant abdomen due to hepatomegaly (normal liver enzymes)
  5. Hypertrophic kidneys
  6. Hypoglycemic seizures
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15
Q

[Met/GSD]

Symptom presentation starting in puberty Type 1 glycogen storage disease (von Gierke disease)? (3)

A
  1. Gout due to hyperuricemia
  2. Delayed puberty
  3. Xanthoma, Pancreatitis due to hypertriglyceridemia
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16
Q

[Met/GSD]

Symptom presentation manifesting in adulthood for Type 1 glycogen storage disease (von Gierke disease)? (6)

A
  1. GI: Hepatic adenoma (most patients)
  2. Cardio: Pulmonary hypertension
  3. Endo: Osteoporosis
  4. Kidney: Proteinuria, hypertension, kidney stones, FSGN
  5. Heme: Bleeding or menorrhagia due to impaired platelet function and development of reduced or dysfunctional von Willebrand factor
  6. Neuro: Seizure or cognitive impairment if hypoglycemic insults
17
Q

[Met/GSD]

Biochemical findings in Type 1 glycogen storage disease (von Gierke disease)? (5)

A
  1. Hypoglycemia
  2. Lactic acidosis, elevated ketons
  3. Hyperuricemia
  4. Hyperlipidemia
  5. Neutropenia if Type 1b
18
Q

[Met/GSD]

Management of Type 1 glycogen storage disease (von Gierke disease)? (3)

A
  1. Frequent meals with high carbohydrates
  2. Uncooked cornstarch if > 1 year old
  3. Limit fructose, sucrose, and galactose in diet
19
Q

[Met/GSD]

Metabolic disease that is Glycogen storage disease and Lysosomal storage disease?

A

Pompe disease Type 2 glycogen storage disease
(lysosomal acid a-l,4-glucosidase deficiency)

20
Q

[Met/GSD]

Two types and definitions of Type 2 glycogen storage disease (Pompe)?

A
  1. Infantile-onset
    - Onset before 12 months with cardiomyopathy
  2. Late-onset
    - Onset before 12 months without cardiomyopathy
    - Onset after 12 months
21
Q

[Met/GSD]

Enzyme defect in Type 2 glycogen storage disease (Pompe)?

A

Lysosomal acid a-l,4-glucosidase deficiency (acid maltase)

22
Q

[Met/GSD]

Two major organ system affected by Type 2 glycogen storage disease (Pompe)?

A

Skeletal
Cardiac

23
Q

[Met/GSD]

Clinical presentation of Infantile onset Type 2 glycogen storage disease (Pompe)? (4)
- Age of onset
- Presentation

A

Medium age at 4 months old
Neuro: Hypotonia, generalized muscle weakness, Feeding difficulties, failure to thrive, Respiratory distress
Cardio: Cardiomegaly, Hypertrophic cardiomyopathy
Liver: Hepatomegaly

24
Q

[Met/GSD]

Clinical presentation of late onset Type 2 glycogen storage disease (Pompe)? (2)

A

Proximal muscle weakness, Respiratory insufficiency
Hepatomegaly

25
Q

[Met/GSD]

Important test in enzyme replacement therapy to test effects of the treatment?

A

Cross-reactive immunologic material (CRIM)

26
Q

[Met/GSD]

Available enzyme replacement therapy (ERT) for Type 2 glycogen storage (Pompe) disease? (2)

A

Myozyme
Lumizyme

27
Q

[Met/GSD]

Three major organ system affected by Type 3 glycogen storage disease (Cori)?

A

Liver
Cardiac muscle
Skeletal muscle

28
Q

[Met/GSD]

Subtypes of Type 3 glycogen storage disease (Cori)?

A

GSD IIIa: 85%, most common, liver and muscle involvement
GSD IIIb: only liver involvement

29
Q

[Met/GSD]

Clinical presentation of Type 3 glycogen storage disease (Cori)?
- Infancy to adulthood

A

Infancy: Hepatomegaly, FTT, fasting ketotic hypoglycemia, elevated liver enzymes and hyperlipidemia
Transition: Cardiac hypertrophy and cardiomegaly
Adulthood: Skeletal myopathy in 3rd, 4th decades

30
Q

[Met/GSD]

Two major organ involvement in Type 4 glycogen storage disease (Andersen)?

A

Liver
Neuromuscular

31
Q

[Met/GSD]

Five subtypes and major clinical manifestation of Type 4 glycogen storage disease (Andersen)?

A
  1. Fatal perinatal neuromuscular subtype: fetal akinesia and deformation sequence
  2. Congenital neuromuscular subtype: profound hypotonia, dilated cardiomyopathy
  3. Classic (progressive) hepatic subtype: normal at birth, FTT and hepatomegaly, liver dysfunction
  4. Non-progressive hepatic subtype: hepatomegaly, liver dysfunction, myopathy, hypotonia
  5. Childhood neuromuscular subtype: variable presentation, myopathy in 20-30s
32
Q

[Met/GSD]

Organ involvement in Type 5 glycogen storage disease (McArdle)?

A

Muscle

33
Q

[Met/GSD]

Symptom presentation and characteristic phenomenon of Type 5 glycogen storage disease (McArdle)?

A

Exercise intolerance by rapid fatigue, myalgia, and cramps
Second-wind phenomenon: relief of myalgia and fatigue after a few minutes of rest
Recurrent myoglobinuria

34
Q

[Met/GSD]

Management of Type 5 glycogen storage disease (McArdle)?

A

Moderate-intensity aerobic training
Pre-exercise carbohydrates drinks

35
Q

[Met/GSD]

Major organ involvement in Type 6 glycogen storage disease (Hers)?

A

Liver

36
Q

[Met/GSD]

Clinical manifestation in Type 6 glycogen storage disease (Hers)?
- Infancy and childhood/adolescence

A

Infancy: hepatomegaly, poor growth, ketotic hypoglycemia, elevated hepatic transaminases, hyperlipidemia, and low prealbumin level
Childhood/adolescence: short stature, delayed puberty, osteopenia, and osteoporosis.

37
Q

[Met/GSD]

Major organ involvement in Type 7 glycogen storage disease (Tauri)?

A

Muscle

38
Q

[Met/GSD]

Characteristic lab finding in Type 5 glycogen storage disease (McArdle)?

A

Elevated ammonia on exercise instead of lactate
(Defect in conversion of glycogen or glucose to lactate)

39
Q

[Met/Large/Basic]

Big four categories of complex-molecule defects?

A

Lysosomal storage disease
Peroxisomal disease
Intracellular trafficking and processing defects
Inborn errors of cholesterol synthesis

3. Metabolism (14 decks)

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