Large, GSD Flashcards by juhee lee

[Met/GSD]

Name of Type 0 glycogen storage disorder?

Glycogen synthase deficiency

How well did you know this?

Not at all

Perfectly

[Met/GSD]

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

von Gierke disease
Glucose-6-phosphatase

How well did you know this?

Not at all

Perfectly

[Met/GSD]

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

Pompe disease
a-l,4-glucosidase

How well did you know this?

Not at all

Perfectly

[Met/GSD]

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

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

How well did you know this?

Not at all

Perfectly

[Met/GSD]

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

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

How well did you know this?

Not at all

Perfectly

[Met/GSD]

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

McArdle disease
Glycogen phosphorylase

How well did you know this?

Not at all

Perfectly

[Met/GSD]

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

Hers disease
Hepatic Glycogen phosphorylase

How well did you know this?

Not at all

Perfectly

[Met/GSD]

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

Tarui disease
Phosphofructokinase

How well did you know this?

Not at all

Perfectly

[Met/GSD]

Name of Type 9 glycogen storage disorder and its enzyme defect?

X-linked phosphorylase kinase deficiency
Phosphorylase kinase

How well did you know this?

Not at all

Perfectly

[Met/GSD]

GSD presenting predominantly with hypoglycemia (3)

GSD 0 (glycogen synthase)
GSD 1 (Glc-6-phosphatase, von-Gierke)
GSD 3 (Debranching, Cori)

How well did you know this?

Not at all

Perfectly

[Met/GSD]

GSD presenting predominantly with hepatomegaly (3)

GSD 4 (branching, Andersen)
GSD 6 (hepatic phosphorylase, Hers)
GSD 9 (phosphorylase kinase)

How well did you know this?

Not at all

Perfectly

[Met/GSD]

GSD presenting predominantly with exercise intolerance (2)

GSD 5 (muscle phosphorylase, McArdle)
GSD 7 (phosphofructokinase, Tauri)

How well did you know this?

Not at all

Perfectly

[Met/GSD0]

Types of GSD0 and its genes

Liver glycogen synthase GSD 0a (GYS2)
Muscle glycogen synthase GSD 0b (GYS1)

How well did you know this?

Not at all

Perfectly

[Met/GSD0]

Symptoms of GSD 0a

Fasting-induced ketotic hypoglycemia
Post-prandial hyperglycemia and glycosuria
No hepatomegaly

How well did you know this?

Not at all

Perfectly

[Met/GSD1]

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

Liver
Kidney
Intestinal mucosa

How well did you know this?

Not at all

Perfectly

[Met/GSD1]

Subtypes of Type 1 GSD (von Gierke disease)?

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

How well did you know this?

Not at all

Perfectly

[Met/GSD1]

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

Recurrent bacterial infections due to neutropenia and impaired neutrophil function
Oral and intestinal mucosa ulcers

How well did you know this?

Not at all

Perfectly

[Met/GSD1]

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

3-4 months of age
Doll-like facies
FTT, short stature with thin extremities
Protuberant abdomen due to hepatomegaly (normal liver enzymes)
Hypertrophic kidneys
Hypoglycemic seizures

How well did you know this?

Not at all

Perfectly

[Met/GSD1]

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

Study These Flashcards

Gout due to hyperuricemia
Delayed puberty
Xanthoma, Pancreatitis due to hypertriglyceridemia

[Met/GSD1]

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

GI:
Cardio:
Endo:
Kidney:
Heme:
Neuro:

Study These Flashcards

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

[Met/GSD1]

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

Study These Flashcards

Hypoglycemia
Lactic acidosis, elevated ketons
Hyperuricemia
Hyperlipidemia
Neutropenia if Type 1b

[Met/GSD1]

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

Study These Flashcards

Frequent meals with high complex carbohydrates
Uncooked cornstarch if > 1 year old
Limit fructose, sucrose, and galactose in diet

[Met/GSD]

Glycogen storage disease included in newborn screening?

Study These Flashcards

Pompe disease (Type 2 glycogen storage disorder)

[Met/GSD2]

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

Study These Flashcards

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

# [Met/GSD2] Two types and definitions of Type 2 glycogen storage disease (Pompe)?

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

# [Met/GSD2] Enzyme defect in Type 2 glycogen storage disease (Pompe)?

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

# [Met/GSD2] Two major organ system affected by Type 2 glycogen storage disease (Pompe)?

Skeletal Cardiac

# [Met/GSD2] Clinical presentation of Infantile onset Type 2 glycogen storage disease (Pompe)? (4) - Age of onset - Presentation

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

# [Met/GSD2] Clinical presentation of late onset Type 2 glycogen storage disease (Pompe)? (3)

Proximal muscle weakness, Respiratory insufficiency Hepatomegaly

# [Met/GSD2] Available enzyme replacement therapy (ERT) for Type 2 glycogen storage (Pompe) disease? (2)

Myozyme Lumizyme

# [Met/GSD3] Three major organ system affected by Type 3 glycogen storage disease (Cori)?

Liver Cardiac muscle Skeletal muscle

# [Met/GSD3] Subtypes of Type 3 glycogen storage disease (Cori)?

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

# [Met/GSD3] Clinical presentation of Type 3 glycogen storage disease (Cori)? - Infancy to adulthood

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

# [Met/GSD4] Two major organ involvement in Type 4 glycogen storage disease (Andersen)?

Liver (classic) Neuromuscular

# [Met/GSD4] Five subtypes and major clinical manifestation of Type 4 glycogen storage disease (Andersen)?

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

# [Met/GSD5] Organ involvement in Type 5 glycogen storage disease (McArdle)?

Muscle

# [Met/GSD5] Symptom presentation and characteristic phenomenon of Type 5 glycogen storage disease (McArdle)?

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

# [Met/GSD5] Management of Type 5 glycogen storage disease (McArdle)?

Moderate-intensity aerobic training Pre-exercise carbohydrates drinks

# [Met/GSD5] Characteristic lab finding in Type 5 glycogen storage disease (McArdle)?

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

# [Met/GSD6] Major organ involvement in Type 6 glycogen storage disease (Hers)?

Liver

# [Met/GSD6] Clinical manifestation in Type 6 glycogen storage disease (Hers)? - Infancy and childhood/adolescence

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

# [Met/GSD7] Major organ involvement in Type 7 glycogen storage disease (Tauri)?

Muscle (+ hemolytic anemia)

# [Met/GSD7] Symptoms of Type 7 glycogen storage disease (Tauri)? (2)

1. Exercise intolerance symptoms as GSD5 (McArdle) 2. Compensatory hemolysis

# [Met/GSD9] Major organ involvement in Type 9 glycogen storage disease (Phosphorylase kinase deficiency)?

Liver Muscle (PHKA1, X-linked)

# [Met/GSD12] Type 12 glycogen storage disorder enzyme defect and its symptoms (2)?

Aldolase A deficiency Sx: 1. Hemolytic anemia 2. Rhabdomyolysis

# [Met/GSD/AMPK] Characteristics of AMP-activated protein kinase (AMPK) deficiency 1. Causal gene 2. Inheritance 3. symptoms

Gene: PRKAG2 Inheritance: Autosomal dominant Symptoms: - Cardiac supraventricular arrhythmias (WPW), onset in later adolescence - Progressive mild to severe cardiac hypertrophy

Large, GSD Flashcards

(46 cards)