Glycogen storage disease type deficiency

There are important methodologic considerations which apply to the use of cultured amniotic fluid cells for the detection of biochemical disorders. The first is that the enzymes which can be sampled are those which are usually present in fibroblasts or fibroblast-like cells. Therefore, conditions such as phenylketonuria and glycogen storage disease type I, which are associated with deficiencies of enzymes present only in liver and kidney, are not amenable to this approach. The same also pertains to enzyme deficiencies affecting other specific tissues. 

The most common glycogen storage disease. Type I or von Gierke disease, is a deficiency in glucose 6-phosphatase in which glycogen structures are normal however, the liver is unable to dephosphory-late glucose 6-phosphate, and it remains trapped In the cell. 

Glycogen storage disease type V (McArdle s disease) is caused by a deficiency of myophos-phorylase. It is the most common of the various types of glycogen storage disease, but is still considered rare (about 1 in 100000). 

Lei, K.-X, Pan, C.-X, Llu,X-L., Shelly, L.L., Yang Chou, J. Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type la. J. Biol. Chem. 1995 270 11882-11886... 

Indications Pompe disease (Glycogen storage disease Type II), GAA deficiency... 

Glucose-6-phosphatase deficiency (glycogen storage disease type 1)... 

Glycogen storage disease (type 1 von Gierke s) Deficiency of glucose-6-phosphatase makes the glycogen stores of the body inaccessible. Children with this disorder have hepatomegaly and hypoglyeaemia accompanied by hyperlipidaemia and lactic acidosis... 

Glycogen Storage Disease Type III Debranching Enzyme Deficiency. 304... 

Glycogen storage disease type I is characterized by deficient activity of the glucose-6-phosphatase enzyme systan. The glucose-6-phosphatase enzyme is located in the endoplasmic reticulum (ER) (microsomal fraction). Glucose-6-phosphate must first be transported from the cytoplasm into... 

The debranching enzyme has two enzymatic activities a glycosyltransferase and an a-1,6 gly-cosidase activity. There are two forms of deb-rancher enzyme deficiency in glycogen storage disease type Ilia (85 % of patients), the enzyme is deficient in both liver and muscle, whereas in glycogen storage disease type nib (15 % of patients), the enzyme is only deficient in liver but is normal in muscle. The preservation of muscle enzyme activity is caused by mutations in exon 3 where a muscle promoter allows translational start using a secondary start site after the mutation. Isolated deficiency of only one of the two enzyme activities is very rare. 

Glycogen Storage Disease Type IV Branching Enzyme Deficiency [19-22]... 

Chou JY, Jun HS, Mansfield BC. Glycogen storage disease type I and G6Pase-p deficiency etiology and therapy. Nat Rev Endocrinol. 2010 6(12) 676-88. 

Two reports of a new genetic abnormality in primary gout associated with elevated intracellular PP-ribose-P levels and increased PP-ribose-P synthetase have been described in detail at this meeting. The hyperuricemia of glycogen storage disease (Type 1) caused by deficient glucose-6-phosphatase, has been shown by a... 

Table 15.9. Glycogen storage disease type 2 (acid a-glucosidase, acid maltase deficiency)...

An enzyme which catalyses the interconversion of glucose and glucose-6-phosphate. A deficiency of this enzyme occurs in glycogen storage disease type I (Von Gierke s disease). 

Huidekoper, H.H., G. Visser, M.T. Ackermans, H.P. Sauerwein and F.A. Wijburg, 2010 A potential role for muscle in glucose homeostasis in vivo kinetic studies in glycogen storage disease type la and lhictose-l,6-bisphosphatase deficiency. J Inherit Metab Dis. 33, 25-31. 

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