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Inherited lipid metabolism disorder

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)
 
Monarch Initiative: MONDO:0002525
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  
  • CROGVInherited lipid metabolism disorder
Follow this link to review classifications for Inherited lipid metabolism disorder in Orphanet.

Professional guidelines

PubMed

Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N
J Clin Lipidol 2022 Nov-Dec;16(6):797-812. Epub 2022 Sep 29 doi: 10.1016/j.jacl.2022.08.009. PMID: 36243606
Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A
Mol Genet Metab 2022 Sep-Oct;137(1-2):49-61. Epub 2022 Jul 26 doi: 10.1016/j.ymgme.2022.07.010. PMID: 35926321
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Recent clinical studies

Therapy

Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M
J Am Coll Cardiol 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024. PMID: 33602475
Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS
Nat Rev Dis Primers 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. PMID: 29219151
Bouhairie VE, Goldberg AC
Cardiol Clin 2015 May;33(2):169-79. doi: 10.1016/j.ccl.2015.01.001. PMID: 25939291Free PMC Article
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857
Germain DP
Orphanet J Rare Dis 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187Free PMC Article

Prognosis

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: 36300606Free PMC Article
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ
Nat Rev Dis Primers 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. PMID: 30275469

Clinical prediction guides

Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Wang J, Dron JS, Ban MR, Robinson JF, McIntyre AD, Alazzam M, Zhao PJ, Dilliott AA, Cao H, Huff MW, Rhainds D, Low-Kam C, Dubé MP, Lettre G, Tardif JC, Hegele RA
Arterioscler Thromb Vasc Biol 2016 Dec;36(12):2439-2445. Epub 2016 Oct 20 doi: 10.1161/ATVBAHA.116.308027. PMID: 27765764
Hegele RA, Ginsberg HN, Chapman MJ, Nordestgaard BG, Kuivenhoven JA, Averna M, Borén J, Bruckert E, Catapano AL, Descamps OS, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A, Watts GF, Wiklund O; European Atherosclerosis Society Consensus Panel
Lancet Diabetes Endocrinol 2014 Aug;2(8):655-66. Epub 2013 Dec 23 doi: 10.1016/S2213-8587(13)70191-8. PMID: 24731657Free PMC Article
Kousi M, Lehesjoki AE, Mole SE
Hum Mutat 2012 Jan;33(1):42-63. Epub 2011 Nov 16 doi: 10.1002/humu.21624. PMID: 21990111

Recent systematic reviews

Han X, Lu S, Gu C, Bian Z, Xie X, Qiao X
BMC Pediatr 2023 Oct 6;23(1):503. doi: 10.1186/s12887-023-04324-3. PMID: 37803383Free PMC Article
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U
Cochrane Database Syst Rev 2017 Jul 7;7(7):CD006401. doi: 10.1002/14651858.CD006401.pub4. PMID: 28685504Free PMC Article
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML
Calcif Tissue Int 2014 Dec;95(6):477-94. Epub 2014 Nov 7 doi: 10.1007/s00223-014-9923-y. PMID: 25377906
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E
Cochrane Database Syst Rev 2014 Jul 23;(7):CD006401. doi: 10.1002/14651858.CD006401.pub3. PMID: 25054950
Smart NA, Marshall BJ, Daley M, Boulos E, Windus J, Baker N, Kwok N
Cochrane Database Syst Rev 2011 Feb 16;2011(2):CD007957. doi: 10.1002/14651858.CD007957.pub2. PMID: 21328303Free PMC Article

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