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Metabolic myopathy

MedGen UID:: 452364
•Concept ID:: C0270984
•: Disease or Syndrome

Synonyms:	Metabolic Myopathy; metabolic myopathy; Myopathy in metabolic diseases
SNOMED CT:	Myopathy in metabolic diseases (26111005); Metabolic myopathy (26111005)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	GAA, AMPD1

Monarch Initiative:	MONDO:0020123
Orphanet:	ORPHA98486

Definition

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. [from NCI]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMetabolic myopathy
- CROGVGlycogen storage disease, type II
  - Glycogen storage disease type II, infantile
- CROGVMuscle AMP deaminase deficiency

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Myopathy
        Metabolic myopathy
        Glycogen storage disease, type II
        Danon disease
        Glycogen storage disease due to acid maltase deficiency, infantile onset
        Glycogen storage disease due to acid maltase deficiency, late-onset
        Glycogen storage disease type II, infantile
        Hereditary myopathy with lactic acidosis due to ISCU deficiency
        Metabolic myopathy due to lactate transporter defect
        Muscle AMP deaminase deficiency

Follow this link to review classifications for Metabolic myopathy in Orphanet.

Professional guidelines

PubMed

Diagnosis and management of metabolic myopathies.

Bhai SF, Vissing J
Muscle Nerve 2023 Sep;68(3):250-256. Epub 2023 May 25 doi: 10.1002/mus.27840. PMID: 37226557

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606 Free PMC Article

Oxidative stress and antioxidant treatment in patients with peripheral artery disease.

Koutakis P, Ismaeel A, Farmer P, Purcell S, Smith RS, Eidson JL, Bohannon WT
Physiol Rep 2018 Apr;6(7):e13650. doi: 10.14814/phy2.13650. PMID: 29611350 Free PMC Article

See all (8)

Recent clinical studies

Etiology

Anaesthetic implications for Pompe disease. A case description.

Ruano Santiago M, Soto Garrucho E, González Marín Y, Pérez Muñoz AM, Echevarría Moreno M
Rev Esp Anestesiol Reanim (Engl Ed) 2023 Feb;70(2):112-115. Epub 2023 Feb 20 doi: 10.1016/j.redare.2021.09.012. PMID: 36813027

Dystrophinopathies.

Brandsema JF, Darras BT
Semin Neurol 2015 Aug;35(4):369-84. Epub 2015 Oct 6 doi: 10.1055/s-0035-1558982. PMID: 26502761

Longitudinal polysomnographic findings in infantile Pompe disease.

Kansagra S, Austin S, DeArmey S, Kazi Z, Kravitz RM, Kishnani PS
Am J Med Genet A 2015 Apr;167A(4):858-61. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.37007. PMID: 25706820

A pattern recognition approach to patients with a suspected myopathy.

Barohn RJ, Dimachkie MM, Jackson CE
Neurol Clin 2014 Aug;32(3):569-93, vii. doi: 10.1016/j.ncl.2014.04.008. PMID: 25037080 Free PMC Article

Congenital myopathies.

Shield LK
Aust Paediatr J 1988;24 Suppl 1:77-9. PMID: 3202738

See all (99)

Diagnosis

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606 Free PMC Article

Metabolic Myopathies.

Tarnopolsky MA
Continuum (Minneap Minn) 2022 Dec 1;28(6):1752-1777. doi: 10.1212/CON.0000000000001182. PMID: 36537979

Other Myopathies.

Hussain Y, Miller S
Neurol Clin 2020 Aug;38(3):619-635. doi: 10.1016/j.ncl.2020.04.002. PMID: 32703473

Diagnostic evaluation of rhabdomyolysis.

Nance JR, Mammen AL
Muscle Nerve 2015 Jun;51(6):793-810. Epub 2015 Mar 14 doi: 10.1002/mus.24606. PMID: 25678154 Free PMC Article

A pattern recognition approach to patients with a suspected myopathy.

Barohn RJ, Dimachkie MM, Jackson CE
Neurol Clin 2014 Aug;32(3):569-93, vii. doi: 10.1016/j.ncl.2014.04.008. PMID: 25037080 Free PMC Article

See all (154)

Therapy

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606 Free PMC Article

McArdle disease or glycogen storage disease type v: Should it affect anaesthetic management?

Ayerza-Casas V, Ferreira-Laso L, Alloza-Fortun MC, Fraile-Jimenez AE
Rev Esp Anestesiol Reanim 2015 Feb;62(2):101-3. Epub 2014 Jul 14 doi: 10.1016/j.redar.2014.03.017. PMID: 25034937

Physical training for McArdle disease.

Quinlivan R, Vissing J, Hilton-Jones D, Buckley J
Cochrane Database Syst Rev 2011 Dec 7;(12):CD007931. doi: 10.1002/14651858.CD007931.pub2. PMID: 22161416

Pompe disease gene therapy.

Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, Collins SW, Conlon TJ, Clement N, Cleaver BD, Cloutier DA, Porvasnik SL, Islam S, Elmallah MK, Martin A, Smith BK, Fuller DD, Lawson LA, Mah CS
Hum Mol Genet 2011 Apr 15;20(R1):R61-8. Epub 2011 Apr 25 doi: 10.1093/hmg/ddr174. PMID: 21518733 Free PMC Article

Nemaline myopathy and cardiomyopathy.

Skyllouriotis ML, Marx M, Skyllouriotis P, Bittner R, Wimmer M
Pediatr Neurol 1999 Apr;20(4):319-21. doi: 10.1016/s0887-8994(98)00158-1. PMID: 10328285

See all (55)

Prognosis

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606 Free PMC Article

Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia.

Groennebaek T, Billeskov TB, Schytz CT, Jespersen NR, Bøtker HE, Olsen RKJ, Eldrup N, Nielsen J, Farup J, De Paoli FV, Vissing K
Cells 2020 Feb 28;9(3) doi: 10.3390/cells9030570. PMID: 32121096 Free PMC Article

Pathogenesis of idiopathic inflammatory myopathies.

Grundtman C, Lundberg IE
Curr Rheumatol Rep 2006 Jun;8(3):188-95. doi: 10.1007/s11926-996-0024-4. PMID: 16901076

Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice.

Ding EY, Hodges BL, Hu H, McVie-Wylie AJ, Serra D, Migone FK, Pressley D, Chen YT, Amalfitano A
Hum Gene Ther 2001 May 20;12(8):955-65. doi: 10.1089/104303401750195917. PMID: 11387060

Acute pediatric rhabdomyolysis.

Watemberg N, Leshner RL, Armstrong BA, Lerman-Sagie T
J Child Neurol 2000 Apr;15(4):222-7. doi: 10.1177/088307380001500404. PMID: 10805187

See all (53)

Clinical prediction guides

Infantile-onset Pompe disease in seven Mexican children.

Sánchez-Sánchez LM, Ávila-Rejón C, Díaz-Martínez R, Díaz-Murillo B, Kazakova E, López-Valdez J, Martínez-Montoya V, Olaiz-Urbina J, Radillo-Díaz P, Ricárdez-Marcial E, Sandoval-Pacheco R, Torres-Octavo B, Vergara-Sánchez I
Gac Med Mex 2022;158(5):265-270. doi: 10.24875/GMM.M22000694. PMID: 36572041

Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia.

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY
Mol Genet Metab 2017 Nov;122(3):108-116. Epub 2017 Aug 30 doi: 10.1016/j.ymgme.2017.08.010. PMID: 28888851

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.

Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
Ann Neurol 2001 Aug;50(2):202-7. doi: 10.1002/ana.1095. PMID: 11506403

Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.

Minetti C, Tanji K, Chang HW, Medori R, Cordone G, DiMauro S, Bonilla E
Eur J Pediatr 1993 Oct;152(10):848-51. doi: 10.1007/BF02073385. PMID: 8223790

See all (66)

Recent systematic reviews

Cardiac comorbidities in McArdle disease: case report and systematic review.

Hoxhaj D, Vadi G, Bianchi L, Fontanelli L, Torri F, Siciliano G, Ricci G
Neurol Sci 2024 Oct;45(10):4757-4765. Epub 2024 May 27 doi: 10.1007/s10072-024-07600-x. PMID: 38802689 Free PMC Article

A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan.

Kuo YC, Hsueh HW, Hsueh SJ, Lee NC, Hsieh MJ, Chao CC, Chien YH, Huang PH, Yang CC
Neuromuscul Disord 2021 Mar;31(3):218-225. Epub 2021 Jan 13 doi: 10.1016/j.nmd.2021.01.006. PMID: 33589341

Physical training for McArdle disease.

Quinlivan R, Vissing J, Hilton-Jones D, Buckley J
Cochrane Database Syst Rev 2011 Dec 7;(12):CD007931. doi: 10.1002/14651858.CD007931.pub2. PMID: 22161416

See all (3)

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Metabolic myopathy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

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