Glycogen storage disease type III
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Glycogen storage disease type III
Genetics
Population genetics
Genetic disorders
Achondroplasia
Alagille syndrome (NORD)
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Polycystic kidney disease
Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Alpha-thalassemia
Beta-thalassemia
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
Krabbe disease
Leukodystrophy
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Phenylketonuria (NORD)
Polycystic kidney disease
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Wilson disease
Cri du chat syndrome
Williams syndrome
Angelman syndrome
Prader-Willi syndrome
Beckwith-Wiedemann syndrome
Mitochondrial myopathy
Klinefelter syndrome
Turner syndrome
Fragile X syndrome
Friedreich ataxia
Huntington disease
Myotonic dystrophy
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Alport syndrome
Fragile X syndrome
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Lesch-Nyhan syndrome
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
X-linked agammaglobulinemia
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Assessments
Flashcards
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USMLE® Step 1 questions
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High Yield Notes
7 pages
Flashcards
Glycogen storage disease type III
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Questions
USMLE® Step 1 style questions USMLE
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A 1-year-old girl is brought to the clinic for evaluation of poor growth and poor muscle tone. The mother states that the patient “doesn’t seem to be gaining weight,” despite adequate feedings. Temperature is 36.4°C (97.5°F), pulse is 98/min, blood pressure is 104/64, and respiratory rate is 35/min. Motor examination reveals diffuse hypotonia in all 4 limbs. Abdominal examination reveals hepatomegaly. Rapid fingerstick glucose is 40 mg/dL. Echocardiogram reveals left ventricular hypertrophy. Serum lactate levels are within normal limits. A liver biopsy reveals widespread fibrosis with minimal fat infiltration. Further analysis reveals accumulation of limit dextrin-like complexes in the cytosol of hepatocytes. Which of the following is the most likely diagnosis?
External References
First Aid
2024
2023
2022
2021
Cori disease p. 85
Debranching enzyme
Cori disease p. 85
Summary
Glycogen storage disease type III is one of the genetic disorders affecting how the body stores and uses glycogen. People with glycogen storage disease type III have a deficiency of the glycogen debrancher enzyme (α-1,6-glucosidase), one of the enzymes that help to break down glycogen. The symptoms of glycogen storage disease type III generally appear during childhood and include generalized muscle weakness, hepatosplenomegaly, fasting hypoglycemia, and ketosis.