Glycogen storage disease type III in Inuit children

Zimakas, Paul James A.; Rodd, Celia J.
February 2005
CMAJ: Canadian Medical Association Journal;2/1/2005, Vol. 172 Issue 3, p355
Academic Journal
GLYCOGEN STORAGE DISEASE TYPE III (GSD III) was diagnosed in 4 Inuit children (3 confirmed, 1 suspected case) at our institution over the last decade. This rare autosomal recessive disease, which results from a deficiency of the debranching enzyme required for complete degradation of the glycogen molecule, has not been previously described in this population. The possible clinical presentations are heterogeneous, as is the spectrum of severity of this disease. The long-term sequelae can be severe, including recurrent hypoglycemia, hepatic cirrhosis and progressive muscle weakness. These 4 cases would suggest an increased prevalence of GSD III in the Inuit population. Therefore, it is important for health care providers caring for this population to consider and recognize this rare but serious disease.


Related Articles

  • The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate. Pan, Chi-Jiunn; Chen, Li-Yuan; Mansfield, Brian C.; Salani, Barbara; Varesio, Luigi; Chou, Janice Yang // Human Genetics;Apr2003, Vol. 112 Issue 4, p430 

    Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT). Sequence alignments identify a signature motif shared by G6PT and a family of transporters of phosphorylated metabolites. Two null signature motif mutations have been identified in...

  • Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk. Nagasaka, Hironori; Hirano, Ken-ichi; Ohtake, Akira; Miida, Takashi; Takatani, Tomozumi; Murayama, Kei; Yorifuji, Tohru; Kobayashi, Kunihiko; Kanazawa, Masaki; Ogawa, Atsushi; Takayanagi, Masaki // European Journal of Pediatrics;Oct2007, Vol. 166 Issue 10, p1009 

    Background: Besides profound hypoglycemia with hyperlacticemia, glycogen storage disease type Ia (GSD Ia) presents hypertriglyceridemia that is often resistant to dietary treatment with cornstarch. The present study aimed to evaluate the effects of medium-chain triglycerides...

  • GLYCOGEN STORAGE DISEASE TYPE 1B ASSOCIATED WITH A UNILATERAL HYPOPLASTIC TEMPORAL LOBE. Kavecan, I. I.; Obrenovic, M. R.; Jovanovic-Privrodski, J. D.; Redzek-Mudrinic, T. B.; Konstantinidis, N. V.; Vlaski, J. S. // Acta Endocrinologica (1841-0987);2014, Vol. 10 Issue 3, p530 

    The article discusses the case of a 4-year-old boy diagnosed with glycogen storage disease type 1b (GSD-1B), a rare autosomal recessive disease. Topics discussed include the GSD-1B diagnosis by genetic mutation analysis, notable features of the patient, results of laboratory examination...

  • Renal sonographic findings of type I glycogen storage disease in infancy and early childhood. Chun-Chen Lin; Jeng-Daw Tsai; Shuan-Pei Lin; Hung-Chang Lee // Pediatric Radiology;Aug2005, Vol. 35 Issue 8, p786 

    Background: Type I glycogen storage disease (GSD-I) is an inherited disorder affecting glycogenolysis and gluconeogenesis. The characteristic manifestations are hepatomegaly, hypoglycemia, hyperlacticacidemia, hyperuricemia, and hyperlipidemia. Renal disease is regarded as a long-term...

  • Subnormal response of plasma glucose concentration to glucagon despite adequate glycogenolysis: the importance of kinetic measurements. Sprangers, F.; Wijburg, F. A.; Romijn, J. A.; Ackermans, M. T.; Hoekstra, J. H.; Heymans, H. S. A.; Sauerwein, H. P. // European Journal of Pediatrics;2001, Vol. 160 Issue 3, p185 

    Abstract The plasma glucose concentration response to a glucagon bolus is considered an important diagnostic tool in hypoglycemia of unknown origin. The response of plasma glucose concentration to glucagon can however also be misleading in the differential diagnosis. In a 3-week-old male infant...

  • A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. Soggia, Ana Priscila; Correa-Giannella, Maria Lúcia; Fortes, Maria Angela Henriques; Luna, Ana Mercedes Cavaleiro; Pereira, Maria Adelaide Albergaria // BMC Medical Genetics;2010, Vol. 11, p3 

    Background: Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date in...

  • Glucose-6-phosphatase deficiency. Froissart, Roseline; Piraud, Monique; Boudjemline, Alix Mollet; Vianey-Saban, Christine; Petit, François; Hubert-Buron, Aurélie; Eberschweiler, Pascale Trioche; Gajdos, Vincent; Labrune, Philippe // Orphanet Journal of Rare Diseases;2011, Vol. 6 Issue 1, p27 

    Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in...

  • McArdle's disease.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p1415 

    A definition of the medical term "McArdle's disease" which refers to a glycogen storage disease is presented.

  • Andersen's disease.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p114 

    A definition of the term "Andersen's disease," which refers to a type IV glycogen storage disease, is presented.


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics