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Increased muscle lipid content

MedGen UID:
373292
Concept ID:
C1837262
Finding
Synonym: Lipid accumulation in skeletal muscle
 
HPO: HP:0009058

Definition

An abnormal accumulation of lipids in skeletal muscle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased muscle lipid content

Conditions with this feature

Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Neutral lipid storage myopathy
MedGen UID:
339913
Concept ID:
C1853136
Disease or Syndrome
Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011). Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; 275630) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
MedGen UID:
463248
Concept ID:
C3151898
Disease or Syndrome
Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010). See also transient infantile liver failure (LFIT; 613070), which is a similar disorder.

Professional guidelines

PubMed

Futema M, Taylor-Beadling A, Williams M, Humphries SE
J Lipid Res 2021;62:100139. Epub 2021 Oct 16 doi: 10.1016/j.jlr.2021.100139. PMID: 34666015Free PMC Article
De Borst GJ, Moll F
J Cardiovasc Surg (Torino) 2012 Feb;53(1 Suppl 1):27-34. PMID: 22433721
Villarroya F, Domingo P, Giralt M
Biochim Biophys Acta 2010 Mar;1801(3):392-9. Epub 2009 Sep 30 doi: 10.1016/j.bbalip.2009.09.018. PMID: 19800025

Recent clinical studies

Etiology

García-Eguren G, Giró O, Romero MDM, Grasa M, Hanzu FA
J Endocrinol 2019 Aug;242(2):65-77. doi: 10.1530/JOE-19-0168. PMID: 31117053
Leibel N, Shen W, Mao X, Punyanitya M, Gallagher D, Horlick M, Shungu DC, Oberfield SE
J Pediatr Endocrinol Metab 2009 Apr;22(4):301-7. doi: 10.1515/jpem.2009.22.4.301. PMID: 19554803Free PMC Article

Diagnosis

Laforêt P, Vianey-Saban C
Neuromuscul Disord 2010 Nov;20(11):693-700. Epub 2010 Aug 5 doi: 10.1016/j.nmd.2010.06.018. PMID: 20691590
Leibel N, Shen W, Mao X, Punyanitya M, Gallagher D, Horlick M, Shungu DC, Oberfield SE
J Pediatr Endocrinol Metab 2009 Apr;22(4):301-7. doi: 10.1515/jpem.2009.22.4.301. PMID: 19554803Free PMC Article
Poynten AM, Gan SK, Kriketos AD, O'Sullivan A, Kelly JJ, Ellis BA, Chisholm DJ, Campbell LV
Metabolism 2003 Jun;52(6):699-704. doi: 10.1016/s0026-0495(03)00030-1. PMID: 12800094

Therapy

García-Eguren G, Giró O, Romero MDM, Grasa M, Hanzu FA
J Endocrinol 2019 Aug;242(2):65-77. doi: 10.1530/JOE-19-0168. PMID: 31117053
Poynten AM, Gan SK, Kriketos AD, O'Sullivan A, Kelly JJ, Ellis BA, Chisholm DJ, Campbell LV
Metabolism 2003 Jun;52(6):699-704. doi: 10.1016/s0026-0495(03)00030-1. PMID: 12800094
Goodpaster BH, Carlson CL, Visser M, Kelley DE, Scherzinger A, Harris TB, Stamm E, Newman AB
J Appl Physiol (1985) 2001 Jun;90(6):2157-65. doi: 10.1152/jappl.2001.90.6.2157. PMID: 11356778

Clinical prediction guides

Laforêt P, Vianey-Saban C
Neuromuscul Disord 2010 Nov;20(11):693-700. Epub 2010 Aug 5 doi: 10.1016/j.nmd.2010.06.018. PMID: 20691590

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