| Entry |
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| Name |
Glycogen storage disease type XI;
Lactate dehydrogenase A deficiency |
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| Supergrp |
Glycogen storage disease [DS: H00069] Muscle glycogen storage disease [DS: H01762] |
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| Description |
Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, which encodes lactate dehydrogenase.
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| Category |
Inherited metabolic disease
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| Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of carbohydrate metabolism
H01946 Glycogen storage disease type XI
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H01946 Glycogen storage disease type XI
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| Pathway |
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| Network |
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| Element |
| N00733 | LDHA deficiency in glycolysis |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Maekawa M, Sudo K, Kanno T, Li SS |
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| Title |
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. |
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| Journal |
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| Reference |
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| Authors |
Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K |
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| Title |
Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy. |
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| Journal |
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| LinkDB |
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