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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLipid Metabolism, Inborn Errors

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Lipid 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: 31838973 Free 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

See all (2193)

Recent clinical studies

Etiology

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

Monogenic, polygenic, and oligogenic familial hypercholesterolemia.

Tada H, Nohara A, Kawashiri MA
Curr Opin Lipidol 2019 Aug;30(4):300-306. doi: 10.1097/QCO.0000000000000563. PMID: 31290811

Human genetic disorders of sphingolipid biosynthesis.

Astudillo L, Sabourdy F, Therville N, Bode H, Ségui B, Andrieu-Abadie N, Hornemann T, Levade T
J Inherit Metab Dis 2015 Jan;38(1):65-76. Epub 2014 Aug 21 doi: 10.1007/s10545-014-9736-1. PMID: 25141825

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

Sphingolipid metabolism diseases.

Kolter T, Sandhoff K
Biochim Biophys Acta 2006 Dec;1758(12):2057-79. Epub 2006 Jun 14 doi: 10.1016/j.bbamem.2006.05.027. PMID: 16854371

See all (498)

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: 36300606 Free PMC Article

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: 33907061 Free 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

Phytosterolemia.

Bain BJ, Chakravorty S
Am J Hematol 2016 Jun;91(6):643. Epub 2016 Apr 24 doi: 10.1002/ajh.24343. PMID: 26927922

Myopathies.

Glasberg MR
Neurosurgery 1979 Dec;5(6):747-58. doi: 10.1227/00006123-197912000-00017. PMID: 392333

See all (1029)

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: 36300606 Free 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

Triheptanoin: First Approval.

Shirley M
Drugs 2020 Oct;80(15):1595-1600. doi: 10.1007/s40265-020-01399-5. PMID: 32897506 Free PMC Article

Hereditary phytosterolaemia.

Harper K, Bagot CN, Leach M
Br J Haematol 2019 Oct;187(2):137. Epub 2019 Jul 8 doi: 10.1111/bjh.16076. PMID: 31282987

Phytosterolemia.

Bain BJ, Chakravorty S
Am J Hematol 2016 Jun;91(6):643. Epub 2016 Apr 24 doi: 10.1002/ajh.24343. PMID: 26927922

See all (390)

Prognosis

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.

Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R
Mol Genet Metab 2023 Nov;140(3):107668. Epub 2023 Jul 26 doi: 10.1016/j.ymgme.2023.107668. PMID: 37549443 Free PMC Article

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: 36300606 Free 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: 36253820 Free 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

See all (290)

Clinical prediction guides

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.

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

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.

Altered mRNA splicing in lipoprotein disorders.

Calandra S, Tarugi P, Bertolini S
Curr Opin Lipidol 2011 Apr;22(2):93-9. doi: 10.1097/MOL.0b013e3283426ebc. PMID: 21157333

See all (324)

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: 31730477 Free 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

See all (3)

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Lipid Metabolism, Inborn Errors

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

Related information

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