Glycogen storage disease type IV

Summary of Glycogen storage disease type IV
Glycogen storage disease type IV, or Andersen's disease, is a rare autosomal recessive metabolic disorder caused by mutation in the GBE1 gene and a defective glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. It affects 1 in 800,000 individuals worldwide and comprises 3% of all glycogen storage diseases.

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Genetics

Genetics

Population genetics
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

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Glycogen storage disease type IV

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Glycogen storage disease type IV

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Glycogen storage disease type IV is also known as disease.

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A 10-month female infant is brought the emergency department because of progressive abdominal distension. Medical history is significant for growth delay. On physical examination, the patient shows marked hepatomegaly, fluid wave sign, and shifting dullness. Her temperature is 36.5°C (98°F), pulse is 107/min, respirations are 16/min, and blood pressure is 120/70 mmHg. Laboratory studies show increased prothrombin time and partial thromboplastin time. A wedge biopsy of the liver shows positive periodic acid–Schiff stain, portal fibrosis, and fibrous septa. A deficiency of which of the following enzyme activities is the most likely cause of the findings in this patient?