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Glycogen storage disease type III

Summary of Glycogen storage disease type III
Glycogen storage disease type III, also known as Cori disease or Forbes disease, is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes. It is a less severe form of Von Gierke disease, as gluconeogenesis remains intact in Cori disease.

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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)
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

Assessments
Glycogen storage disease type III

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High Yield Notes
7 pages
Flashcards

Glycogen storage disease type III

12 flashcards
Questions

USMLE® Step 1 style questions USMLE

1 questions
Preview

 A 6-month male infant is referred to the pediatrician's office for the evaluation of an inborn error of metabolism. Medical history is relevant for low-weight and growth below the third percentile since birth. On physical examination, the baby is quivering and looks irritable, on abdominal palpation he has marked hepatomegaly, his liver edge is 4 cm below the right costal margin. His temperature is 36.7°C (98°F), pulse is 110/min, respirations are 30/min, blood pressure is 120/80 mmHg. Blood glucose is 45 mg/dL (2.5 mmol/L). A liver biopsy shows abnormal glycogen deposits, which contain single glucose residue at branches.  A deficiency of which of the following enzyme activities is the most likely cause of the findings in this patient? 

External References