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→Pompe disease: +update
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=Specific diseases= | =Specific diseases= | ||
==Pompe disease== | ==Pompe disease== | ||
*[[AKA]] | *[[AKA]] glycogen storage disease type II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref> | ||
===General=== | ===General=== | ||
Deficiency of ''alpha-1,4-glucosidase''; it degrades glycogen to glucose in lysosomes. | *Deficiency of ''alpha-1,4-glucosidase''; it degrades glycogen to glucose in lysosomes. | ||
*Autosomal recessive inheritance. | |||
*Identified in 1932 by dutch pathologist Johannes C. Pompe.<ref>Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932; 76:304.</ref> | |||
* A enzyme replacement therapy exists. <ref>{{Cite journal | last1 = Amalfitano | first1 = A. | last2 = Bengur | first2 = AR. | last3 = Morse | first3 = RP. | last4 = Majure | first4 = JM. | last5 = Case | first5 = LE. | last6 = Veerling | first6 = DL. | last7 = Mackey | first7 = J. | last8 = Kishnani | first8 = P. | last9 = Smith | first9 = W. | title = Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. | journal = Genet Med | volume = 3 | issue = 2 | pages = 132-8 | month = | year = | doi = 10.109700125817-200103000-00007 | PMID = 11286229 }} | |||
</ref> | |||
===Clinical=== | |||
*infantile onset (usually at age 4-8months): | |||
**Floppy baby. | |||
**Macroglossia. | |||
**Hepatomegaly. | |||
**Big heart - often early death from cardiac failure. | |||
*late onset (usually at age 1-2years): | |||
**Progressive muscle weakness (myopathy). | |||
**Usually only mild cardiac involvement. | |||
Note: clinical course correlates with remaining enzyme activity.<ref>{{Cite journal | last1 = Hermans | first1 = MM. | last2 = van Leenen | first2 = D. | last3 = Kroos | first3 = MA. | last4 = Beesley | first4 = CE. | last5 = Van Der Ploeg | first5 = AT. | last6 = Sakuraba | first6 = H. | last7 = Wevers | first7 = R. | last8 = Kleijer | first8 = W. | last9 = Michelakakis | first9 = H. | title = Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. | journal = Hum Mutat | volume = 23 | issue = 1 | pages = 47-56 | month = Jan | year = 2004 | doi = 10.1002/humu.10286 | PMID = 14695532 }}</ref> | |||
===Diagnosis=== | |||
* Mutations in acid alpha-glucosidase. | |||
* Elevated serum CK (<10x). | |||
* Cytoplasmic (lysosomal) vacuoles (Acid phosphatase +ve). | |||
* Muscle fibers with vacuoles enlarged. | |||
* Type 1 fibers more often affected. | |||
* PAS+ve deposits. | |||
* Autophagic (Lysosomal) vacuoles in electron microscopy. | |||
<gallery> | <gallery> | ||
File:Pompe_vacuoles.jpg | Large vacuoles in Pompe disease (H&E, WC/jensflorian) | File:Pompe_vacuoles.jpg | Large vacuoles in Pompe disease (H&E, WC/jensflorian) | ||