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Wednesday, Dec 03, 2008 | 02:25 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
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Glycogen Storage Disease Type V
Glycogenosis Type V, McArdle Disease,
Muscle Phosphorylase Deficiency, Myophosphorylase Deficiency
Glycogen Storage Disease Type V (GSD-V) is an autosomal recessive metabolic disorder characterized by the loss of the enzyme that breaks down glycogen, a major source of energy for muscles. As a result, patients with GSD-V are not able to utilize their glycogen stores and will present clinically with muscle pain, cramps, and stiffness during exercise.
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Glycogen Storage Disease, Type 0
Liver Glycogen Synthase Deficiency
Glycogen Storage Disease is a family of genetic diseases involving the metabolism of glycogen (a big sugar molecule) in the body. It has numerous types, each with its own symptoms and characteristics. Glycogen Storage Disease type 0 (GSD-0) is caused by a defective enzyme in the liver of the affected child. It often causes a large liver, morning fatigue and sometimes seizures. Undiagnosed or u...
Glycogen Storage disease: Type 3
Cori Disease, Amylo-1, 6-glucosidase deficiency, Debrancher deficiency, Glucogenesis type III
: Glycogen Storage Disease type 3 (GSD 3) is an inherited metabolic disease which is characterized by an enlarged liver, muscle weakness, low blood sugar and growth delay. These problems result from a defect in an enzyme called amylo-1, 6-glucosidase, which is needed for the proper conversion of glycogen into glucose. There are two types of GSD3, type a and b. GSD3a involves both the liver and mus...
Glycogen-Storage Disease Type VI
Hers disease
Glycogen-storage disease type VI (GSD VI) is a rare, inherited condition characterized by low blood sugar (hypoglycemia) during periods of brief fasting. The human body uses sugar (glucose) as its main source of energy. During fasting, blood sugar levels must be maintained at adequate levels in order for the body to function properly. After eating, sugar from the digestion of food is stored in the...
Goldenhar Syndrome
Oculo-Auriculo-Veterbral Spectrum, Hemifacial microsomia
Goldenhar Syndrome is a rare genetic syndrome that is present at birth and results in multiple anomalies of the face. There is a wide spectrum of symptoms and facial involvement with the structures most commonly affected being the cheekbones, jawbones, and the bony structures of the lower skull
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