From the Guidelines
Aldolase is a crucial enzyme used as a biomarker for muscle damage or disease, and its levels should be interpreted alongside other clinical findings and tests like creatine kinase (CK) to determine the extent of muscle damage or disease. In clinical settings, aldolase is primarily used to diagnose and monitor conditions affecting skeletal muscle, such as muscular dystrophies, polymyositis, dermatomyositis, and rhabdomyolysis 1. Elevated serum aldolase levels are commonly seen in these conditions, and normal aldolase levels in adults typically range from 1.0 to 7.5 units per liter, though reference ranges may vary between laboratories.
Key Points to Consider
- Aldolase levels can also be elevated in liver diseases and certain cancers, making it necessary to interpret results alongside other clinical findings and tests like creatine kinase (CK) 1.
- The enzyme exists in three isoforms (A, B, and C) with different tissue distributions - A predominantly in muscle, B in liver, and C in brain tissue 1.
- This distribution pattern helps explain why aldolase elevation can indicate damage to different organ systems depending on the clinical context.
Clinical Applications
- Aldolase is used as a biomarker for muscle damage or disease, and its levels should be interpreted alongside other clinical findings and tests like creatine kinase (CK) to determine the extent of muscle damage or disease 1.
- In patients with immune-related adverse events, aldolase levels can be used to monitor for possible concurrent myositis, along with other tests such as CPK, ESR, and CRP 1.
- In patients with glycogen storage disease type III, aldolase levels can be used to monitor for muscle damage or disease, along with other tests such as serum AST, ALT, PT, bilirubin, and albumin 1.
From the Research
Aldolase Overview
- Aldolase (EC 4.1.2.13) plays a crucial role in glucose metabolism 2
- It has a molecular weight of 160 kDa and exists in three isozymes: aldolase A, B, and C 2
- The enzyme is present in all cells, with high concentrations in muscles, liver, and brain 2
Clinical Significance
- Elevated serum aldolase levels are associated with myotonic muscular disease, such as progressive muscular dystrophy and polymyositis 2
- Aldolase levels rise in myocardial infarction, reaching a maximum within 24-48 hours and returning to normal within five days 2
- In muscular diseases, aldolase A isozyme is elevated, while aldolase B isozyme is elevated in acute hepatitis 2
- Aldolase becomes elevated in serum with malignant tumors, with isozyme A being predominant 2
Aldolase Deficiency
- Aldolase A deficiency is a rare autosomal recessive disorder caused by mutations in the ALDOA gene 3, 4
- Clinical manifestations include hemolytic anemia, recurrent episodes of rhabdomyolysis, and increased muscle weakness 3, 4
- Diagnosis is critical for appropriate supportive care, monitoring, and treatment 5