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Adenosine monophosphate deaminase deficiency

MedGen UID:
444140
•Concept ID:
C2931781
•
Disease or Syndrome
Synonym: Myoadenylate Deaminase Deficiency, Myopathy due to
SNOMED CT: Deficiency of adenylic acid deaminase (124525004); Deficiency of AMP aminase (124525004); Deficiency of AMP deaminase (124525004); Deficiency of adenosine monophosphate deaminase (124525004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0013028
Orphanet: ORPHA45

Definition

A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdenosine monophosphate deaminase deficiency

Recent clinical studies

Etiology

Exercise efficiency impairment in metabolic myopathies.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F
Sci Rep 2020 May 29;10(1):8765. doi: 10.1038/s41598-020-65770-y. PMID: 32472082Free PMC Article
A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.
Chan EK, Kornberg AJ, Ryan MM
Arch Dis Child 2015 Aug;100(8):793-7. Epub 2015 Jan 29 doi: 10.1136/archdischild-2014-307663. PMID: 25633066
Metabolic disorders of purine metabolism affecting the nervous system.
Jinnah HA, Sabina RL, Van Den Berghe G
Handb Clin Neurol 2013;113:1827-36. doi: 10.1016/B978-0-444-59565-2.00052-6. PMID: 23622405Free PMC Article

Diagnosis

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Rannou F, Scotet V, Marcorelles P, Monnoyer R, Le Maréchal C
PLoS One 2017;12(11):e0187266. Epub 2017 Nov 2 doi: 10.1371/journal.pone.0187266. PMID: 29095874Free PMC Article
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.
Lim L, Palayer M, Bruneau A, Letournel F, Le Maréchal C, Simard G, Reynier P, Homedan C, Nadaj-Pakleza A
Ann Biol Clin (Paris) 2017 Aug 1;75(4):445-449. doi: 10.1684/abc.2017.1253. PMID: 28751290
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA
PLoS One 2015;10(7):e0132972. Epub 2015 Jul 24 doi: 10.1371/journal.pone.0132972. PMID: 26207760Free PMC Article
A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.
Chan EK, Kornberg AJ, Ryan MM
Arch Dis Child 2015 Aug;100(8):793-7. Epub 2015 Jan 29 doi: 10.1136/archdischild-2014-307663. PMID: 25633066
Metabolic disorders of purine metabolism affecting the nervous system.
Jinnah HA, Sabina RL, Van Den Berghe G
Handb Clin Neurol 2013;113:1827-36. doi: 10.1016/B978-0-444-59565-2.00052-6. PMID: 23622405Free PMC Article

Therapy

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA
PLoS One 2015;10(7):e0132972. Epub 2015 Jul 24 doi: 10.1371/journal.pone.0132972. PMID: 26207760Free PMC Article

Prognosis

Exercise efficiency impairment in metabolic myopathies.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F
Sci Rep 2020 May 29;10(1):8765. doi: 10.1038/s41598-020-65770-y. PMID: 32472082Free PMC Article
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Rannou F, Scotet V, Marcorelles P, Monnoyer R, Le Maréchal C
PLoS One 2017;12(11):e0187266. Epub 2017 Nov 2 doi: 10.1371/journal.pone.0187266. PMID: 29095874Free PMC Article
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA
PLoS One 2015;10(7):e0132972. Epub 2015 Jul 24 doi: 10.1371/journal.pone.0132972. PMID: 26207760Free PMC Article

Clinical prediction guides

Exercise efficiency impairment in metabolic myopathies.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F
Sci Rep 2020 May 29;10(1):8765. doi: 10.1038/s41598-020-65770-y. PMID: 32472082Free PMC Article
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Rannou F, Scotet V, Marcorelles P, Monnoyer R, Le Maréchal C
PLoS One 2017;12(11):e0187266. Epub 2017 Nov 2 doi: 10.1371/journal.pone.0187266. PMID: 29095874Free PMC Article
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.
Lim L, Palayer M, Bruneau A, Letournel F, Le Maréchal C, Simard G, Reynier P, Homedan C, Nadaj-Pakleza A
Ann Biol Clin (Paris) 2017 Aug 1;75(4):445-449. doi: 10.1684/abc.2017.1253. PMID: 28751290
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA
PLoS One 2015;10(7):e0132972. Epub 2015 Jul 24 doi: 10.1371/journal.pone.0132972. PMID: 26207760Free PMC Article
Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.
Castro-Gago M, Gómez-Lado C, Pérez-Gay L, Eirís-Puñal J, Martínez EP, García-Consuegra I, Martín MA
J Child Neurol 2011 Jun;26(6):734-7. Epub 2011 Feb 22 doi: 10.1177/0883073810390367. PMID: 21343608

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