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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

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
Sturm AC, Truty R, Callis TE, Aguilar S, Esplin ED, Garcia S, Haverfield EV, Morales A, Nussbaum RL, Rojahn S, Vatta M, Rader DJ
JAMA Cardiol 2021 Aug 1;6(8):902-909. doi: 10.1001/jamacardio.2021.1301. PMID: 34037665Free PMC Article
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Recent clinical studies

Etiology

Abifadel M, Boileau C
J Intern Med 2023 Feb;293(2):144-165. Epub 2022 Oct 17 doi: 10.1111/joim.13577. PMID: 36196022Free PMC Article
Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V
Medicina (Kaunas) 2022 Nov 17;58(11) doi: 10.3390/medicina58111665. PMID: 36422206Free PMC Article
Bertolini S, Calandra S, Arca M, Averna M, Catapano AL, Tarugi P; Italian Study Group of Homozygous Familial Hypercholesterolemia
Atherosclerosis 2020 Nov;312:72-78. Epub 2020 Sep 9 doi: 10.1016/j.atherosclerosis.2020.08.027. PMID: 32977124
Krasi G, Bushati V, Precone V, Cortese B, Agostini F, Tezzele S, Baglivo M, Cecchin S, Aquilanti B, Velluti V, Matera G, Gagliardi L, Miggiano GAD, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):47-49. doi: 10.23750/abm.v90i10-S.8757. PMID: 31577253Free PMC Article
Benito-Vicente A, Uribe KB, Jebari S, Galicia-Garcia U, Ostolaza H, Martin C
Int J Mol Sci 2018 Nov 1;19(11) doi: 10.3390/ijms19113426. PMID: 30388787Free PMC Article

Diagnosis

Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V
Medicina (Kaunas) 2022 Nov 17;58(11) doi: 10.3390/medicina58111665. PMID: 36422206Free PMC Article
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
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
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
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

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
Gill PK, Dron JS, Berberich AJ, Wang J, McIntyre AD, Cao H, Hegele RA
J Clin Lipidol 2021 Jan-Feb;15(1):79-87. Epub 2020 Nov 24 doi: 10.1016/j.jacl.2020.11.006. PMID: 33303402
Di Toro A, Favalli V, Arbustini E
J Cardiovasc Med (Hagerstown) 2018 Feb;19 Suppl 1:e1-e5. doi: 10.2459/JCM.0000000000000637. PMID: 29538136
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

Recent systematic reviews

Monda E, Diana G, Graziani F, Rubino M, Bakalakos A, Linhart A, Germain DP, Scarpa M, Biagini E, Pieroni M, Elliott PM, Limongelli G
Circ Genom Precis Med 2023 Dec;16(6):e004252. Epub 2023 Dec 4 doi: 10.1161/CIRCGEN.123.004252. PMID: 38047356
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

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