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Disorder of lipid metabolism

MedGen UID:
57587
Concept ID:
C0154251
Disease or Syndrome
Synonyms: Lipid Metabolism Disorder; Lipid Metabolism Disorders; Metabolism Disorder, Lipid; Metabolism Disorders, Lipid
SNOMED CT: Lipid metabolism disorder (267431006); Disorder of lipid metabolism (267431006)
 
Orphanet: ORPHA309005

Definition

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of lipid metabolism
Follow this link to review classifications for Disorder of lipid metabolism in Orphanet.

Recent clinical studies

Etiology

Batais MA, Almigbal TH, Shaik NA, Alharbi FK, Alharbi KK, Ali Khan I
Medicine (Baltimore) 2019 Jan;98(4):e14247. doi: 10.1097/MD.0000000000014247. PMID: 30681615Free PMC Article
Setia N, Saxena R, Sawhney JPS, Verma IC
Indian J Pediatr 2018 May;85(5):339-343. Epub 2018 Feb 15 doi: 10.1007/s12098-017-2589-5. PMID: 29450819
Chora JR, Medeiros AM, Alves AC, Bourbon M
Genet Med 2018 Jun;20(6):591-598. Epub 2017 Oct 26 doi: 10.1038/gim.2017.151. PMID: 29261184
Sangrós FJ, Torrecilla J, Giráldez-García C, Carrillo L, Mancera J, Mur T, Franch J, Díez J, Goday A, Serrano R, García-Soidán FJ, Cuatrecasas G, Igual D, Moreno A, Millaruelo JM, Carramiñana F, Ruiz MA, Pérez FC, Iriarte Y, Lorenzo Á, González M, Álvarez B, Barutell L, Mayayo MS, Del Castillo M, Navarro E, Malo F, Cambra A, López R, Gutiérrez MÁ, Gutiérrez L, Boente C, Mediavilla JJ, Prieto L, Mendo L, Mansilla MJ, Ortega FJ, Borras A, Sánchez LG, Obaya JC, Alonso M, García F, Gutiérrez ÁT, Hernández AM, Suárez D, Álvarez JC, Sáenz I, Martínez FJ, Casorrán A, Ripoll J, Salanova A, Marín MT, Gutiérrez F, Innerárity J, Álvarez MDM, Artola S, Bedoya MJ, Poveda S, Álvarez F, Brito MJ, Iglesias R, Paniagua F, Nogales P, Gómez Á, Rubio JF, Durán MC, Sagredo J, Gijón MT, Rollán MÁ, Pérez PP, Gamarra J, Carbonell F, García-Giralda L, Antón JJ, de la Flor M, Martínez R, Pardo JL, Ruiz A, Plana R, Macía R, Villaró M, Babace C, Torres JL, Blanco C, Jurado Á, Martín JL, Navarro J, Sanz G, Colas R, Cordero B, de Castro C, Ibáñez M, Monzón A, Porta N, Gómez MDC, Llanes R, Rodríguez JJ, Granero E, Sánchez M, Martínez J, Ezkurra P, Ávila L, de la Sen C, Rodríguez A, Buil P, Gabriel P, Roura P, Tarragó E, Mundet X, Bosch R, González JC, Bobé MI, Mata M, Ruiz I, López F, Birules M, Armengol O, de Miguel RM, Romera L, Benito B, Piulats N, Bilbeny B, Cabré JJ, Cos X, Pujol R, Seguí M, Losada C, de Santiago AM, Muñoz P, Regidor E
Rev Esp Cardiol (Engl Ed) 2018 Mar;71(3):170-177. Epub 2017 Aug 5 doi: 10.1016/j.rec.2017.04.035. PMID: 28789915
Arnold-Reed DE, Brett T, Troeung L, Vickery A, Garton-Smith J, Bell D, Pang J, Grace T, Bulsara C, Li I, Bulsara M, Watts GF
BMJ Open 2017 Oct 22;7(10):e017539. doi: 10.1136/bmjopen-2017-017539. PMID: 29061621Free PMC Article

Diagnosis

Setia N, Saxena R, Sawhney JPS, Verma IC
Indian J Pediatr 2018 May;85(5):339-343. Epub 2018 Feb 15 doi: 10.1007/s12098-017-2589-5. PMID: 29450819
Chora JR, Medeiros AM, Alves AC, Bourbon M
Genet Med 2018 Jun;20(6):591-598. Epub 2017 Oct 26 doi: 10.1038/gim.2017.151. PMID: 29261184
Arnold-Reed DE, Brett T, Troeung L, Vickery A, Garton-Smith J, Bell D, Pang J, Grace T, Bulsara C, Li I, Bulsara M, Watts GF
BMJ Open 2017 Oct 22;7(10):e017539. doi: 10.1136/bmjopen-2017-017539. PMID: 29061621Free PMC Article
Leng Z, Li R, Li Y, Wang L, Wang Y, Yang Y
Echocardiography 2017 Mar;34(3):390-396. Epub 2017 Jan 3 doi: 10.1111/echo.13442. PMID: 28052405
Khnykin D, Rønnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL
J Am Acad Dermatol 2012 Apr;66(4):606-16. Epub 2011 Aug 19 doi: 10.1016/j.jaad.2011.04.014. PMID: 21856041

Therapy

Arnold-Reed DE, Brett T, Troeung L, Vickery A, Garton-Smith J, Bell D, Pang J, Grace T, Bulsara C, Li I, Bulsara M, Watts GF
BMJ Open 2017 Oct 22;7(10):e017539. doi: 10.1136/bmjopen-2017-017539. PMID: 29061621Free PMC Article
Bos S, Phillips M, Watts GF, Verhoeven AJM, Sijbrands EJG, Ward NC
J Clin Lipidol 2017 May - Jun;11(3):682-693. Epub 2017 Apr 4 doi: 10.1016/j.jacl.2017.03.014. PMID: 28434814
Palma L, Welding M, OʼShea J
Nurse Pract 2016 Aug 18;41(8):36-43. doi: 10.1097/01.NPR.0000488711.52197.bd. PMID: 27414814
Shinohara E, Yamashita S, Kihara S, Hirano K, Ishigami M, Arai T, Nozaki S, Kameda-Takemura K, Kawata S, Matsuzawa Y
Hepatology 1997 Jun;25(6):1502-6. doi: 10.1002/hep.510250632. PMID: 9185775
COURVILLE CB
Bull Los Angel Neuro Soc 1959 Jun;24(2):89-105. PMID: 13662722

Prognosis

Chora JR, Medeiros AM, Alves AC, Bourbon M
Genet Med 2018 Jun;20(6):591-598. Epub 2017 Oct 26 doi: 10.1038/gim.2017.151. PMID: 29261184
Sangrós FJ, Torrecilla J, Giráldez-García C, Carrillo L, Mancera J, Mur T, Franch J, Díez J, Goday A, Serrano R, García-Soidán FJ, Cuatrecasas G, Igual D, Moreno A, Millaruelo JM, Carramiñana F, Ruiz MA, Pérez FC, Iriarte Y, Lorenzo Á, González M, Álvarez B, Barutell L, Mayayo MS, Del Castillo M, Navarro E, Malo F, Cambra A, López R, Gutiérrez MÁ, Gutiérrez L, Boente C, Mediavilla JJ, Prieto L, Mendo L, Mansilla MJ, Ortega FJ, Borras A, Sánchez LG, Obaya JC, Alonso M, García F, Gutiérrez ÁT, Hernández AM, Suárez D, Álvarez JC, Sáenz I, Martínez FJ, Casorrán A, Ripoll J, Salanova A, Marín MT, Gutiérrez F, Innerárity J, Álvarez MDM, Artola S, Bedoya MJ, Poveda S, Álvarez F, Brito MJ, Iglesias R, Paniagua F, Nogales P, Gómez Á, Rubio JF, Durán MC, Sagredo J, Gijón MT, Rollán MÁ, Pérez PP, Gamarra J, Carbonell F, García-Giralda L, Antón JJ, de la Flor M, Martínez R, Pardo JL, Ruiz A, Plana R, Macía R, Villaró M, Babace C, Torres JL, Blanco C, Jurado Á, Martín JL, Navarro J, Sanz G, Colas R, Cordero B, de Castro C, Ibáñez M, Monzón A, Porta N, Gómez MDC, Llanes R, Rodríguez JJ, Granero E, Sánchez M, Martínez J, Ezkurra P, Ávila L, de la Sen C, Rodríguez A, Buil P, Gabriel P, Roura P, Tarragó E, Mundet X, Bosch R, González JC, Bobé MI, Mata M, Ruiz I, López F, Birules M, Armengol O, de Miguel RM, Romera L, Benito B, Piulats N, Bilbeny B, Cabré JJ, Cos X, Pujol R, Seguí M, Losada C, de Santiago AM, Muñoz P, Regidor E
Rev Esp Cardiol (Engl Ed) 2018 Mar;71(3):170-177. Epub 2017 Aug 5 doi: 10.1016/j.rec.2017.04.035. PMID: 28789915
Palma L, Welding M, OʼShea J
Nurse Pract 2016 Aug 18;41(8):36-43. doi: 10.1097/01.NPR.0000488711.52197.bd. PMID: 27414814
Gabcova-Balaziova D, Stanikova D, Vohnout B, Huckova M, Stanik J, Klimes I, Raslova K, Gasperikova D
Endocr Regul 2015 Jul;49(3):164-81. PMID: 26238499
Shivaraju A, Yu C, Kattan MW, Xie H, Shroff AR, Vidovich MI
Am J Cardiol 2014 Jul 15;114(2):206-13. Epub 2014 May 6 doi: 10.1016/j.amjcard.2014.04.044. PMID: 24952927Free PMC Article

Clinical prediction guides

Batais MA, Almigbal TH, Shaik NA, Alharbi FK, Alharbi KK, Ali Khan I
Medicine (Baltimore) 2019 Jan;98(4):e14247. doi: 10.1097/MD.0000000000014247. PMID: 30681615Free PMC Article
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM
J Neurol 2017 Jul;264(7):1334-1342. Epub 2017 May 13 doi: 10.1007/s00415-017-8498-8. PMID: 28503705Free PMC Article
Leng Z, Li R, Li Y, Wang L, Wang Y, Yang Y
Echocardiography 2017 Mar;34(3):390-396. Epub 2017 Jan 3 doi: 10.1111/echo.13442. PMID: 28052405
Setia N, Saxena R, Arora A, Verma IC
Atherosclerosis 2016 Dec;255:31-36. Epub 2016 Oct 14 doi: 10.1016/j.atherosclerosis.2016.10.028. PMID: 27816806
Shinohara E, Yamashita S, Kihara S, Hirano K, Ishigami M, Arai T, Nozaki S, Kameda-Takemura K, Kawata S, Matsuzawa Y
Hepatology 1997 Jun;25(6):1502-6. doi: 10.1002/hep.510250632. PMID: 9185775

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