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Lipid Metabolism, Inborn Errors

MedGen UID:
6106
•Concept ID:
C0023772
•
Disease or Syndrome
Synonym: Lipid Metabolism, Inborn Error

Definition

Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLipid Metabolism, Inborn Errors

Professional guidelines

PubMed

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.
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
Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia.
McGowan MP, Hosseini Dehkordi SH, Moriarty PM, Duell PB
J Am Heart Assoc 2019 Dec 17;8(24):e013225. Epub 2019 Dec 16 doi: 10.1161/JAHA.119.013225. PMID: 31838973Free PMC Article
Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR
Mol Genet Metab 2018 Apr;123(4):416-427. Epub 2018 Feb 28 doi: 10.1016/j.ymgme.2018.02.014. PMID: 29530533

Recent clinical studies

Etiology

Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2022 Jan-Feb;16(1):40-51. Epub 2021 Dec 6 doi: 10.1016/j.jacl.2021.11.015. PMID: 34969652
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH
Mol Genet Metab 2020 Sep-Oct;131(1-2):23-37. Epub 2020 Oct 6 doi: 10.1016/j.ymgme.2020.10.001. PMID: 33093005
Mevalonate pathway: a review of clinical and therapeutical implications.
Buhaescu I, Izzedine H
Clin Biochem 2007 Jun;40(9-10):575-84. Epub 2007 Mar 31 doi: 10.1016/j.clinbiochem.2007.03.016. PMID: 17467679
Peroxisomal lipid metabolism.
Reddy JK, Mannaerts GP
Annu Rev Nutr 1994;14:343-70. doi: 10.1146/annurev.nu.14.070194.002015. PMID: 7946524
Sphingolipidoses.
Yatsu FM
Calif Med 1971 Apr;114(4):1-6. PMID: 5551302Free PMC Article

Diagnosis

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
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
Chanarin-Dorfman Syndrome: A comprehensive review.
Cakmak E, Bagci G
Liver Int 2021 May;41(5):905-914. Epub 2021 Mar 18 doi: 10.1111/liv.14794. PMID: 33455044
Cholesterol metabolism deficiency.
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407
Lipid storage myopathy.
Liang WC, Nishino I
Curr Neurol Neurosci Rep 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. PMID: 21046290
Metabolic myopathies.
Tein I
Semin Pediatr Neurol 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6. PMID: 8795843

Therapy

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
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
Sitosterolemia.
Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2022 Jan-Feb;16(1):40-51. Epub 2021 Dec 6 doi: 10.1016/j.jacl.2021.11.015. PMID: 34969652
Mevalonate pathway: a review of clinical and therapeutical implications.
Buhaescu I, Izzedine H
Clin Biochem 2007 Jun;40(9-10):575-84. Epub 2007 Mar 31 doi: 10.1016/j.clinbiochem.2007.03.016. PMID: 17467679
Sitosterolemia.
Salen G, Patel S, Batta AK
Cardiovasc Drug Rev 2002 Winter;20(4):255-70. doi: 10.1111/j.1527-3466.2002.tb00096.x. PMID: 12481199

Prognosis

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
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
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
Sitosterolemia.
Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Pearson syndrome.
Farruggia P, Di Marco F, Dufour C
Expert Rev Hematol 2018 Mar;11(3):239-246. Epub 2018 Jan 23 doi: 10.1080/17474086.2018.1426454. PMID: 29337599
Retinitis pigmentosa.
Merin S, Auerbach E
Surv Ophthalmol 1976 Mar-Apr;20(5):303-46. doi: 10.1016/s0039-6257(96)90001-6. PMID: 817406

Clinical prediction guides

Xenosterolemia in clinical practice: what is in a name?
Loh WJ, Watts GF
Curr Opin Endocrinol Diabetes Obes 2023 Apr 1;30(2):123-127. Epub 2022 Dec 29 doi: 10.1097/MED.0000000000000795. PMID: 36597814
Features of chinese patients with sitosterolemia.
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X
Lipids Health Dis 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. PMID: 35042526Free PMC Article
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2022 Jan-Feb;16(1):40-51. Epub 2021 Dec 6 doi: 10.1016/j.jacl.2021.11.015. PMID: 34969652
Diagnosis and Management of Sitosterolemia 2021.
Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K, Tsukamoto K, Dobashi K, Nakamura K, Hori M, Matsuki K, Yamashita S, Yokoyama S, Kawashiri MA, Harada-Shiba M
J Atheroscler Thromb 2021 Aug 1;28(8):791-801. Epub 2021 Apr 28 doi: 10.5551/jat.RV17052. PMID: 33907061Free PMC Article
Plant Sterols, Stanols, and Sitosterolemia.
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article

Recent systematic reviews

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fraser H, Geppert J, Johnson R, Johnson S, Connock M, Clarke A, Taylor-Phillips S, Stinton C
Orphanet J Rare Dis 2019 Nov 15;14(1):258. doi: 10.1186/s13023-019-1226-y. PMID: 31730477Free PMC Article
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.
Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ
Genet Med 2006 Apr;8(4):205-12. doi: 10.1097/01.gim.0000204472.25153.8d. PMID: 16617240

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