ReviewJournal of inherited metabolic disease1997
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.
Review in Journal of inherited metabolic disease, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 56 citations in OpenAlex.
- Does theGenes · 2026Article
- Nutrigenetic Markers Related to Nutrient Metabolism, Recovery, and Performance in Athletes: a Review of Current Evidence.Current nutrition reports · 2026Review
- The effect of AMP deamination on skeletal muscle is stronger and more beneficial in extremely intense exercises to exhaustion and/or extremely stressing conditions.European journal of applied physiology · 2026Article
- Muscle AMP deaminase activity was lower in Neandertals than in modern humans.Nature communications · 2025Article
- Article
- Skeletal muscle contraction kinetics and AMPK responses are modulated by the adenine nucleotide degrading enzyme AMPD1.Journal of applied physiology (Bethesda, Md. : 1985) · 2022Article
- Genetic profiles to identify talents in elite endurance athletes and professional football players.PloS one · 2022Article
- Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players.Frontiers in genetics · 2022Article
- Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study.Frontiers in medicine · 2022Article
- Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.PloS one · 2015Observational
- AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.Journal of applied genetics · 2011Article
- Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue.BMC genomics · 2010Article
- Inborn errors of purine and pyrimidine metabolism.Journal of inherited metabolic disease · 2009Review
- Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans.The Journal of physiology · 2001Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lack of the muscle-specific isoform of AMP deaminase (myoadenylate deaminase deficiency) can cause a metabolic myopathy, with exercise-induced muscle symptoms such as early fatigue, cramps and/or myalgia. It is the most common muscle enzyme defect in man, found in about 2-3% of all muscle biopsies. The genetic basis of the inherited defect is the nonsense mutation C34-T in the AMPD1 gene encoding myoadenylate deaminase. The mutation results in a premature stop of the enzyme synthesis. In a healthy German population, the frequency of the mutant allele was 0.1, and 1% of this population is expected to be homozygous for the mutation. In people with muscle symptoms, the allele frequency was significantly higher (0.145). The correlation between allele frequency and muscle symptoms underscores the clinical significance of this defect. However, the vast majority of homozygous subjects do not develop a metabolic myopathy. This clinical heterogeneity may be due to molecular genetic factors such as alternative splicing of the exon harbouring the mutation, or due to metabolic conditions such as pathways compensating for the defect. The real basis for the high percentage of asymptomatic homozygous subjects remains to be revealed.
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