A number sign (#) is used with this entry because McArdle disease, or glycogen storage disease type V (GSD5), is caused by homozygous or compound. Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen . GeneReview/NIH/UW entry on Glycogen Storage Disease Type V · Asociación Española de Enfermos de Glucogenosis · Videos of advice and. Glucogenosis, tipo I, Glucogenosis, tipo II, 11 Glucogenosis, tipo III, Glucogenosis, tipo IV, Glucogenosis, tipo V, Glucogenosis, tipo VI.

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Patients have enlarged liver, growth retardation, osteopenia, sometimes osteoporosis, full-cheeked round face, nephromegaly and frequent epistaxis due to platelet dysfunction.

Glycogen storage disease type V

Osteoporosis may require bisphosphonates. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Specialised Social Services Eurordis directory. Genetic counseling should be offered.


Primary liver tumors and Pepper syndrome hepatic metastases of neuroblastoma may be evoked but easily ruled glucogebosis through clinical and ultrasound data.

Antenatal diagnosis Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villous cells.

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Elsevier About ScienceDirect Remote access Shopping cart Contact and support Terms and conditions Privacy policy We use cookies to help provide and enhance our service and tailor content and gluucogenosis. Diagnosis is based on clinical presentation, and glycemia and lactacidemia levels, after a meal hyperglycemia and hypolactacidemiaand after three to four hour fasting hypoglycemia and hyperlactacidemia.

The vlucogenosis is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. This is the first case to be reported in the Spanish literature of type III glycogen storage disease glucotenosis with hepatocellular carcinoma. Glycogenosis type IV branching enzyme deficiency, amylopectinosis, Andersen disease, polyglucosan body disease Ryoikibetsu Shokogun Shirizu.

Molecular genetic testing enables confirmation of diagnosis. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 81 Orphan drug s Myophosphorylase deficiency glycogenosis type V; McArdle disease.

The variable presentations of glycogen storage disease type IV: Kidney transplantation can be performed in case of severe renal failure. Kumada S, Okaniwa M. Combined liver-kidney grafts have been performed in a few cases. Use of liver biopsy to measure G6P activity is becoming increasingly rare.


Progressive neuronal degeneration and childhood cirrhosis Ryoikibetsu Shokogun Shirizu. The liver can also show fibrosis and sometimes cirrhosis.

Author links open overlay panel A. Renal protection using converting enzyme inhibitors must be started should microalbuminuria be detected. Etiology The disease is due to a dysfunction in the G6P system, a key step in glycemia regulation. Get Access Get Access. Only comments seeking to improve the quality glucogeenosis gglucogenosis of information on the Orphanet website are accepted.

Check this box if you wish glucogenisis receive a copy of your message. Glycogenosis due to glucosephosphatase G6P deficiency or glycogen storage disease, GSDtype 1, is a group of inherited metabolic diseases, including types a and b see these termsand characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.

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