Abstract is: Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly in red blood cells and muscle tissue. The deficiency may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.
| rare disease | Q929833 |
| class of disease | Q112193867 |
| hemolytic anemia | Q1145668 |
| glycogen storage disease | Q1421738 |
| disorder of glycolysis | Q55787283 |
| hemolytic anemia due to a disorder of glycolytic enzymes | Q55789127 |
| P557 | DiseasesDB | 29873 |
| P2888 | exact match | http://www.orpha.net/ORDO/Orphanet_57 |
| P4317 | GARD rare disease ID | 600 |
| P494 | ICD-10 ID | E74.1 |
| P4229 | ICD-10-CM | E74.0 |
| P1692 | ICD-9-CM | 282.3 |
| P665 | KEGG ID | H01952 |
| P3201 | Medical Dictionary for Regulatory Activities ID | 10019878 |
| 10019878 | ||
| P486 | MeSH descriptor ID | C562718 |
| P6366 | Microsoft Academic ID | 2777001434 |
| P5270 | Mondo ID | MONDO_0012747 |
| P492 | OMIM ID | 611881 |
| 611881 | ||
| P1550 | Orphanet ID | 57 |
| P2892 | UMLS CUI | C0272066 |
| P11430 | UniProt disease ID | DI-01176 |
| P2293 | genetic association | ALDOA | Q14865090 |
| P1995 | health specialty | endocrinology | Q162606 |
| Q40717960 | Anesthesia for a patient with red cell aldolase deficiency |
| Q24632022 | Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation |
| Q72413002 | Red Cell Aldolase Deficiency in Hereditary Spherocytosis |
| Q28245598 | Red cell aldolase deficiency and hemolytic anemia: a new syndrome |
| Q28281724 | Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a japanese family |
| Q14865090 | ALDOA | genetic association | P2293 |
| Category:Aldolase A deficiency | wikimedia | |
| Aldolase A deficiency | wikipedia | |
| Aldolaasi A:n puutos | wikipedia |
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