ALDOA encodes aldolase, fructose-bisphosphate A (364 aa). Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis. Highest expression in Muscle Skeletal (3,137 TPM) and Cells EBV-transformed lymphocytes (1,008 TPM).

Glycogen storage disease due to aldolase A deficiency is associated with mutations in the ALDOA gene on chromosome 16.

ALDOA is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.7.

Genetic testing for ALDOA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for glycogen storage disease due to aldolase A deficiency has been reported in the published literature.

Phenotype severity distribution: 16 always present features, 2 very common features, 8 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for glycogen storage disease due to aldolase A deficiency.

53 publications have been identified in PubMed for glycogen storage disease due to aldolase A deficiency. Research spans Clinical Trial Publication (25%), Case Report / Case Series (21%), and Basic Science / Preclinical (19%).

Recent Publications

• Costa MP (2026). [PMID: 41797620](https://pubmed.ncbi.nlm.nih.gov/41797620/). *Am J Med Genet A*. [Epidemiology / Natural History]

• Mathiesen AS (2026). [PMID: 42350025](https://pubmed.ncbi.nlm.nih.gov/42350025/). *BMJ Open*. [Clinical Trial Publication]

• Mino M (2026). [PMID: 41428406](https://pubmed.ncbi.nlm.nih.gov/41428406/). *Hepatol Res*. [Case Report / Case Series]

• Liao KA (2026). [PMID: 42518514](https://pubmed.ncbi.nlm.nih.gov/42518514/). *Mol Ther Adv*. [Basic Science / Preclinical]

• Halligan RK (2026). [PMID: 42493860](https://pubmed.ncbi.nlm.nih.gov/42493860/). *J Inherit Metab Dis*. [Epidemiology / Natural History]

• Wen Y (2026). [PMID: 42298849](https://pubmed.ncbi.nlm.nih.gov/42298849/). *Zhonghua Er Ke Za Zhi*. [Epidemiology / Natural History]

• Martins JCC (2026). [PMID: 41662339](https://pubmed.ncbi.nlm.nih.gov/41662339/). *PLoS One*. [Clinical Trial Publication]

• Mueller MM (2026). [PMID: 41958685](https://pubmed.ncbi.nlm.nih.gov/41958685/). *Orthop J Sports Med*. [Epidemiology / Natural History]

• Ono D (2026). [PMID: 41708563](https://pubmed.ncbi.nlm.nih.gov/41708563/). *Acta Neuropathol*. [Basic Science / Preclinical]

• Choi SJ (2026). [PMID: 41407198](https://pubmed.ncbi.nlm.nih.gov/41407198/). *Am J Pathol*. [Basic Science / Preclinical]