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Glycogen storage disease

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Introduction

BINDUPRIYA NEELURU REGISTRATION NUMBER: 13101307 a) Glycogen storage diseases are inherited metabolic disorders. Metabolism is a mechanism to supply energy to the body and various enzymes are associated with it. Types of GSD are classified based on the deficiency of any of the enzymes associated with it. GSD type 0 also called glycogen synthetase deficiency attacks only liver and the major difference between this type and the rest is that it doesn't store abnormal glycogen but only stores decreased glycogen in liver. This is due to mutation in gene at locus 12p12. Diagnostics include measuring serum glucose levels and serum lipids and imaging tests like skeletal radiography. (Lerardi-curto L, 2010) GSD type 1a caused due to mutation at loci 17q21 leading to the deficiency of true enzyme glucose 6 phosphatase (G6Pase) and GSD type 1b caused due to mutation at loci 11q23 that leads to the deficiency of glucose 6-phosphate transporter (G6PT). Diagnosis is usually based on analysis of various genetic mutations and Initial test is to measure blood for glucose levels with electrolytes, CBC count, Ultrasonography of Liver and kidneys. (Roth K S, 2009) Molecular Genetic Testing is usually done for the genes, G6PC and SLC37A4 that result in the disease. ...read more.

Middle

Tests include assessing urine ketone levels and serum ketone bodies and liver volume quantitative tests by MRI or CT scan. Definitive methods include liver biopsy, enzyme analysis. (Lerardi-Curto L, 2010) Genetic testing of PYGL gene that is associated with the disease is done for accurate results. (Dali A I and Weinstein D A, 2009) GSD type VII also called tarui disease; is due to deficiency of phosphofructokinase enzyme that plays key role in regulating glycolysis. The disease is caused due to frameshift mutations in the gene that codes for PFK-M subunit at locus 12p13. Definite diagnosis include muscle biopsy and biochemical test involved is to assess the of serum creatine kinase, bilirubin levels and imaging tests like brain imaging scans and phosphorous 31-NMR are useful in diagnosis. (Lerardi-Curto L, 2009) Screening tests usually performed are glucagon tolerance tests and other biochemical data obtained from serum is evaluated and best possibility to diagnose hepatic GSD is using peripheral blood cells. (Maire I et al., 1991) Controls used in diagnostic methods are usually of age and sex matched and were also checked for their exercise levels with the patients. ...read more.

Conclusion

Available from: emedicine. <http://emedicine.medscape.com/article/944467-overview> <http://emedicine.medscape.com/article/944467-diagnosis> [Accessed 12 October 2010] Roth K S., (2009). Medscape clinical references. Available from: emedicine < http://emedicine.medscape.com/article/949937-overview> <http://emedicine.medscape.com/article/949937-diagnosis> [Accessed 15 October 2010] Bali D S and Chen Y T., ( 2008). Gene reviews Available from: NCBI Gene reviews < http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd1> Accessed 9 October 2010] Ibrahim J and McGovern M M., (2010). Medscape clinical references Available from: emedicine < http://emedicine.medscape.com/article/947870-overview> < http://emedicine.medscape.com/article/947870-diagnosis> [Accessed 13 October 2010] Tinkle B T and Leslie N., ( 2010). Gene reviews Available from: NCBI Gene reviews < http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd2. > [Accessed 16 October 2010] Tegay D H and Jose R., (2009). Medscape clinical references Available from: emedicine <http://emedicine.medscape.com/article/942618-overview > <http://emedicine.medscape.com/article/942618-diagnosis> [Accessed 11 October 2010] Lerardi-Curto L., ( 2009). Medscape clinical references Available from: emedicine < http://emedicine.medscape.com/article/941632-overview> < http://emedicine.medscape.com/article/941632-diagnosis> [Accessed 18 October 2010] Cupier E J et al., (2009). Medscape clinical references Available from: emedicine <http://emedicine.medscape.com/article/946577-overview> < http://emedicine.medscape.com/article/946577-diagnosis> [Accessed 14 October 2010] Arenas J et al., (2009). Gene reviews Available from: NCBI Gene reviews <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd5> [Accessed 9 October 2010] Lerardi-Curto L., (2010). Medscape clinical references Available from: emedicine <http://emedicine.medscape.com/article/950587-overview> [Accessed 13 October 2010] Dali A I and Weinstein D A., (2009). Gene reviews Available from: NCBI Gene reviews <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd6> [Accessed 15 October 2010] Lerardi-Curto L., (2009). ...read more.

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