Classification | Key clinical findings | Diagnosis | Therapy |
GSD 0a (MIM #240600, glycogen synthase 2 deficiency in liver) |
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GSD 0b (MIM #611556, muscle glycogen synthase deficiency) |
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GSD I (MIM #232200; GSD Ia, von Gierke disease, glucose-6-phosphatase deficiency; GSD Ib due to q transport defect) |
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Lysosomal acid maltase deficiency (MIM #232300, Pompe disease, GSD II*) |
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Lysosome-associated membrane protein 2 (LAMP2) deficiency (MIM #300257, Danon disease, GSD IIb*) |
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GSD III (MIM #232400, glycogen debrancher deficiency) |
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GSD IV (MIM #232500, glycogen branching enzyme deficiency) |
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GSD V (MIM #232600, McArdle disease, muscle phosphorylase deficiency) |
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GSD VI (MIM #232700, Hers disease, liver phosphorylase deficiency) |
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GSD VII (MIM #232800, Tarui disease, phosphofructokinase deficiency in muscle) |
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Phosphoglycerate kinase deficiency (MIM #311800) |
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GSD IX (phosphorylase kinase deficiency; IX a1, MIM #306000, formerly GSD VIII, alpha-2 subunit defect in liver; IXb, MIM #261750, beta subunit defect in liver; IXc, MIM #613027, gamma subunit defect in liver and muscle; IXd, MIM #300559, alpha subunit defect in muscle) |
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GSD X (MIM #261670, phosphoglycerate mutase deficiency) |
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GSD XI (MIM #612933; lactate dehydrogenase A [LDHA, MIM #150000] deficiency and lactate dehydrogenase B deficiency [LDHB, MIM #150100]) |
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GLUT2 deficiency (MIM #138160; Fanconi-Bickel syndrome) |
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GSD XII (MIM #611881, aldolase A deficiency) |
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GSD XIII (MIM #612932, beta-enolase deficiency in muscle) |
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GSD XIV (MIM #612934, phosphoglucomutase 1 deficiency in muscle) |
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GSD XV (MIM #613507, glycogenin 1 deficiency in muscle) |
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CNS: central nervous system; CPK: creatine phosphokinase; DNA: deoxyribonucleic acid; GLUT2: glucose transporter 2; GSD: glycogen storage disease; RBC: red blood cell.
* These diseases were originally classified as GSDs. It was subsequently recognized that the accumulation of glycogen in lysosomes seen in these diseases is due to defective lysosomal metabolism rather than energy deficiency from glycogen/glucose metabolism. Thus, they are considered both GSDs and lysosomal storage diseases.Do you want to add Medilib to your home screen?