Large, GSD Flashcards by juhee lee

[Met/GSD]

Name of Type 0 glycogen storage disorder?

Glycogen synthase deficiency

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[Met/GSD]

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

von Gierke disease
Glucose-6-phosphatase

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[Met/GSD]

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

Pompe disease
a-l,4-glucosidase

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[Met/GSD]

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

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

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[Met/GSD]

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

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

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[Met/GSD]

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

McArdle disease
Glycogen phosphorylase

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[Met/GSD]

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

Hers disease
Hepatic Glycogen phosphorylase

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[Met/GSD]

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

Tarui disease
Phosphofructokinase

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[Met/GSD]

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

X-linked phosphorylase kinase deficiency
Phosphorylase kinase

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[Met/GSD]

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

Liver
Kidney
Intestinal mucosa

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[Met/GSD]

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

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[Met/GSD]

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

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[Met/GSD]

Glycogen storage disease included in newborn screening?

Pompe disease (Type 2 glycogen storage disorder)

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[Met/GSD]

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

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[Met/GSD]

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

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

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[Met/GSD]

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

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/GSD]

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

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

[Met/GSD]

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

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

[Met/GSD]

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

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

[Met/GSD]

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

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

[Met/GSD]

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

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

[Met/GSD]

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

Skeletal
Cardiac

[Met/GSD]

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/GSD]

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

Proximal muscle weakness, Respiratory insufficiency
Hepatomegaly

# [Met/GSD] Important test in enzyme replacement therapy to test effects of the treatment?

Cross-reactive immunologic material (CRIM)

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

Myozyme Lumizyme

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

Liver Cardiac muscle Skeletal muscle

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

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

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

Liver Neuromuscular

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

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

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

Muscle

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

Moderate-intensity aerobic training Pre-exercise carbohydrates drinks

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

Liver

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

Muscle

# [Met/GSD] 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/Large/Basic] Big four categories of complex-molecule defects?

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