encyclopedia of medical concepts
ψ 
ψ 

Glycogen Storage Disease Type III

More information in Books or onNLM PubMed
Definition: An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.  do not use /congen & do not coord with INFANT, NEWBORN, DISEASES    Other names Limit Dextrinosis; Glycogenosis 3; Glycogen Debranching Enzyme Deficiency; Forbes Disease; Debrancher Deficiency; Cori's Disease; Glycogen Debrancher Deficiencies; Disease, Forbes; Disease, Cori's; Disease, Cori; Dextrinosis, Limit; Dextrinoses, Limit; Deficiency, Glycogen Debrancher; Deficiencies, Glycogen Debrancher; Deficiencies, Debrancher; Debrancher Deficiency, Glycogen; Debrancher Deficiencies, Glycogen; Debrancher Deficiencies; Coris Disease; 3, Glycogenosis
 
SubstanceCAS Registry & nameCategoriesSource
Amylo-1,6-glucosidase deficiency  0   *Glycogen Storage Disease Type III.

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify. We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy