Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GSD XI GSD11 GSD type 11 Glycogen storage disease type 11 GSD due to lactate dehydrogenase M-subunit deficiency lactate dehydrogenase a deficiency LDH-M subunit deficiency Glycogenosis type 11 Glycogenosis due to lactate dehydrogenase M-subunit deficiency |
| Number of Symptoms | 13 |
| OrphanetNr: | 284426 |
| OMIM Id: |
612933
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| ICD-10: |
E74.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Glycogen storage disease due to lactate dehydrogenase deficiency
-Rare genetic disease Muscular glycogenosis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002913) | Myoglobinuria | 22 / 7739 | ||||
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(HPO:0002063) | Rigidity | 92 / 7739 | ||||
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(HPO:0002151) | Increased serum lactate | 92 / 7739 | ||||
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(HPO:0003542) | Increased serum pyruvate | 18 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003326) | Myalgia | 143 / 7739 | ||||
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(HPO:0003201) | Rhabdomyolysis | 27 / 7739 | ||||
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(HPO:0003394) | Muscle cramps | 106 / 7739 | ||||
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(HPO:0003552) | Muscle stiffness | 23 / 7739 | ||||
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(HPO:0003546) | Exercise intolerance | 62 / 7739 | ||||
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(OMIM) | Renal failure may occur | 3 / 7739 | ||||
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(OMIM) | Uterine muscle may be stiff during pregnancy | 1 / 7739 | ||||
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(OMIM) | Erythematous squamous skin lesions | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Kanno et al. (1980) described a family with deficiency of the muscle (M) isoform of LDH (LDHA). The proband was an 18-year-old male who complained of exertional myoglobinuria and easy fatigue. Ischemic work of the forearm was accompanied ... |
| Molecular genetics OMIM |
In a woman with glycogen storage disease XI reported by Maekawa et al. (1986), Maekawa et al. (1990) found homozygosity for a 20-bp deletion in exon 6 of the LDHA gene (150000.0001). Maekawa et al. (1990) noted the ... |
| Population genetics OMIM |
In a survey of 3,776 healthy persons in Shizuoka Prefecture in Japan, Maekawa et al. (1984) found the frequency of heterozygous LDHA and LDHB subunit deficiencies to be 0.185% (about 1 in 540) and 0.159% (about 1 in ... |