H01952 | |
H number | H01952 |
Name | Glycogen storage disease type XII |
Description | Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical presentations are hemolytic anemia, neurologic abnormalities, and myopathy with exercise intolerance. |
Category | Inherited metabolic disorder |
Network | nt06017(H01952) Glycogen metabolism |
Gene | ALDOA [HSA:226] [KO:K01623] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: C562718 OMIM: 611881 |
Reference | PMID:8598869 AUTHORS Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F TITLE Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. JOURNAL N Engl J Med 334:1100-4 (1996) DOI:10.1056/NEJM199604253341705 |