ArticlePLoS genetics2014
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- The return of metabolism: biochemistry and physiology of glycolysis.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Identification of positions in human aldolase a that are neutral for apparent KArchives of biochemistry and biophysics · 2024Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- Hereditary fructose intolerance: A comprehensive review.World journal of clinical pediatrics · 2022Review
- A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.Italian journal of pediatrics · 2022Article
- Diagnosis and clinical management of enzymopathies.Hematology. American Society of Hematology. Education Program · 2021Article
- Aldolase A deficiency: Report of new cases and literature review.Molecular genetics and metabolism reports · 2021Article
- Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.International journal of molecular sciences · 2020Review
- Update Review about Metabolic Myopathies.Life (Basel, Switzerland) · 2020Review
- Non-traumatic and non-drug-induced rhabdomyolysis.Archives of medical sciences. Atherosclerotic diseases · 2019Article
- Glycogen metabolism and glycogen storage disorders.Annals of translational medicine · 2018Review
- Normal human adipose tissue functions and differentiation in patients with biallelicJournal of lipid research · 2017Article
- Acute rhabdomyolysis and inflammation.Journal of inherited metabolic disease · 2015Review
- Rhabdomyolysis: a genetic perspective.Orphanet journal of rare diseases · 2015Review
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Authors and funding
18 authors at 11 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia. Myoglobinuria was always triggered by febrile illnesses. We show that the underlying mechanism involves an exacerbation of aldolase A deficiency at high temperatures that affected myoblasts but not erythrocytes. The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. Lipid droplets accumulated in patient myoblasts relative to control and this was increased by cytokines, and reduced by dexamethasone. Our results expand the clinical spectrum of aldolase A deficiency to isolated temperature-dependent rhabdomyolysis, and suggest that thermolability may be tissue specific. We also propose a treatment for this severe disease.
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