Group of disorders of the glycogen metabolism secondary to deficiency in an enzyme. 

Different categories:

• 1) liver glycogen storage diseases: I, III, IV, VI, IX, 0
• 2) muscle glycogen storage diseases: V, VII, X, XI, XII, XIII and XIX muscle 0 (1 case) andthe  phosphoglycerate kinase muscle deficiency
• 3) generalized glycogenoses : II (Pompe), IIB (Danon)

Different types:

-         type 0: hepatic glycogen synthase deficiency (12p12.2) [MIM 240 600]

-         type Ia: deficiency in glucose-6-phosphatase (type Ia), [MIM 232 200],  mutation on 17q21; see Von Gierke disease;

-         type Ib: [MIM 232 220] glucose-6-phosphate translocase T1 (type Ib) deficiency, autosomal recessive transmission of a mutation of a gene located in 11q23. 

-         type Ic: [MIM 232 220] deficiency in the carrier of glucose-6-phosphate (11q23 ), which carries the glucose from the microsomes to the cytosol . 

-         type II: [MIM 232 300] muscle glycogen storage disease: lysosomal acid maltase deficiency (or a1-4-glucosidase acid) (17q25.2-q25.3); autosomal recessive tranmission: see Pompe disease

-         type IIB :[MIM 300 257]  muscle glycogen storage disease: deficiency in LAMP2 (Lysosomal-Associated Membrane Protein 2) (Xp21.3-p21.2); X-linked transmission: see Danon disease;

-         type III [MIM 232 400]: deficiency in amylo-1, 4-1, 5-glucosidase (1p21) (debranching enzyme); see Cori disease (also referred to as Forbes disease);

-         type IV: [MIM 232 200] deficiency in amylo-1, 4-1, 6-transglucosidase (or liver glycogen phosphorylase or branching enzyme) (3p21): see Andersen disease

-         type V: [MIM 232 600]: deficiency in muscle glycogen phosphorylase; no risk of malignant hyperthermia, but positive tests of contracture in a few patients; risk of rhabdomyolysis if succinycholine; see McArdle disease

-         type VI : [MIM 232 700] deficiency in liver phosphorylase;autosomal recessive transmission; see Hers disease;

-         type VII: [MIM 232 800] muscle phosphofructokinase deficiency (12q13.3); see Tarui disease;

-         type VIII: [MIM 306 000] phosphorylase b kinase deficiency by mutation of PHK A2 gene (Xp22.1-p22.2); recessive X-linked transmission

-         type IX:[MIM 261 750]:  hepatic and-or muscular phosphoglycerate b kinase deficiency (16q12-q13) 

-         type X: muscle glycogen storage disease due to phosphoglycerate mutase  deficiency (Di Mauro-Harlage disease); clinical picture similar to McArdle's disease (glycogen storage disease type V);

-         type XI: [MIM 227 810] hepato-renal glycogen storage disease. Autosomal recessive transmission by mutation of the gene of glucose transporter 2 coding for the GLUT 2 protein (3q26.1-q26.3); see Bickel-Fanconi disease;

-         type XII: aldolase A deficiency; autosomal recessive transmission of a mutation of aldolase A (muscles and red blood cells): 1 reported case of intolerance to effort and weakness in case of fever.

-         type XIII: deficiency in β-enolase; autosomal recessive transmisssion of a mutation  of the ENO3 gene (chromosome 17); 1 reported case with intolerance to effort, myalgia and elevated CK level

-         type XIV: phosphoglucomutase 1 deficiency [MIM 612 934]  (see this term)

Anesthetic implications: 

see different diseases. 

References:

-        Kloesel B, Holzman RS.
Anesthetic management of patients with inborn errors of metabolism.
Anesth Analg 2017; 125: 822-236

-        Gurrieri C, Sprung J, Weingarten TN, Warner ME.
Patients with glycogen storage diseases undergoing anesthesia: a case series.
BMC Anesthesiology 2017: 17: 134.

Updated: June 2019