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Increased muscle lipid content

MedGen UID:
373292
Concept ID:
C1837262
Finding
Synonyms: Fat accumulation in muscle fibers; Fat deposits in muscle fibers; Lipid accumulation in skeletal muscle; Muscle lipidosis; Skeletal muscle lipid accumulation
 
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
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Neutral lipid storage disease with 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).

Recent clinical studies

Etiology

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. PMID: 19554803Free PMC Article
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

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. 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. PMID: 12800094

Therapy

Poynten AM, Gan SK, Kriketos AD, O'Sullivan A, Kelly JJ, Ellis BA, Chisholm DJ, Campbell LV
Metabolism 2003 Jun;52(6):699-704. 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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