Glycogen storage disease type I causes: Difference between revisions

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Revision as of 16:34, 27 November 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Glycogen storage disease type 1 is an autosomal recessive disorder.^[1]
Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. The gene for the glucose-6-phosphatase enzyme is located on chromosome 17q21.
Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. The gene for the glucose-6-phosphatase enzyme is located on chromosome 11q23.

↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.

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 {{Glycogen storage disease type I}}
 {{CMG}}; {{AE}}
-{{Pleasehelp}}
 ==Overview==
 ==Causes==
-Like most serious enzyme deficiencies, GSD Ia is inherited as an [[autosomal recessive]] disease. [[Heterozygote]] [[recessive gene|carrier]]s (parents) are asymptomatic. As for other autosomal recessive diseases, the recurrence risk for each subsequent child of the same parents is 25%.
+*Glycogen storage disease type 1 is an autosomal recessive disorder.<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403  }} </ref>
+*Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. The gene for the glucose-6-phosphatase enzyme is located on chromosome 17q21.
+*Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. The gene for the glucose-6-phosphatase enzyme is located on chromosome 11q23.
 ==References==
 {{reflist|2}}