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Learn About Glycogen Storage Disease Type 7

What is the definition of Glycogen Storage Disease Type 7?
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy, and breathing difficulties. This condition is caused by changes in the PFKM gene and is inherited in an autosomal recessive manner.
What are the alternative names for Glycogen Storage Disease Type 7?
  • Glycogen storage disease type 7
  • GSD7
  • Muscle phosphofructokinase deficiency
  • PFKM deficiency
  • Tarui disease
Who are the top Glycogen Storage Disease Type 7 Local Doctors?
Advanced in Glycogen Storage Disease Type 7
Advanced in Glycogen Storage Disease Type 7

Duke Health Integrated Practice Inc

40 Duke Medicine Cir, 
Durham, NC 
Languages Spoken:
English
Accepting New Patients

Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

Advanced in Glycogen Storage Disease Type 7
Medical Genetics | Pediatrics
Advanced in Glycogen Storage Disease Type 7
Medical Genetics | Pediatrics

Florida Hospital Medical Group Inc

2600 Westhall Ln, 
Maitland, FL 
Languages Spoken:
English, Japanese
Accepting New Patients
Offers Telehealth

Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Maitland, Florida. Dr. Mori is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. Her top areas of expertise are Glycogen Storage Disease Type 7, FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Von Gierke Disease. Dr. Mori is currently accepting new patients.

 
 
 
 
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Experienced in Glycogen Storage Disease Type 7
Pediatric Gastroenterology | Gastroenterology
Experienced in Glycogen Storage Disease Type 7
Pediatric Gastroenterology | Gastroenterology
225 E Chicago Ave, 
Chicago, IL 
Languages Spoken:
English

Maria Perez is a Pediatric Gastroenterologist and a Gastroenterologist in Chicago, Illinois. Dr. Perez is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 7. Her top areas of expertise are Morning Sickness, Chronic Idiopathic Constipation (CIC), Encopresis, and Bowel Incontinence.

What are the latest Glycogen Storage Disease Type 7 Clinical Trials?
Rare Glycogen Storage Diseases Natural History Study

Summary: The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center