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Choline deficiency disease

MedGen UID:
930
•Concept ID:
C0008412
•
Disease or Syndrome
Synonyms: Choline Deficiencies; Choline Deficiency; Deficiencies, Choline; Deficiency, Choline
SNOMED CT: Choline deficiency (238113006)
 
Monarch Initiative: MONDO:0004575

Definition

A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCholine deficiency disease

Professional guidelines

PubMed

Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Lin Y, Zhang W, Chen Z, Lin C, Lin W, Fu Q, Peng W, Chen D
J Pediatr Endocrinol Metab 2021 May 26;34(5):649-652. Epub 2021 Apr 7 doi: 10.1515/jpem-2020-0694. PMID: 33823107
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Pathogenesis and treatment of parenteral nutrition-associated liver disease.
Xu ZW, Li YS
Hepatobiliary Pancreat Dis Int 2012 Dec 15;11(6):586-93. doi: 10.1016/s1499-3872(12)60229-x. PMID: 23232629

Recent clinical studies

Etiology

Protective effects of the succinate/SUCNR1 axis on damaged hepatocytes in NAFLD.
Marsal-Beltran A, Rodríguez-Castellano A, Astiarraga B, Calvo E, Rada P, Madeira A, Rodríguez-Peña MM, Llauradó G, Núñez-Roa C, Gómez-Santos B, Maymó-Masip E, Bosch R, Frutos MD, Moreno-Navarrete JM, Ramos-Molina B, Aspichueta P, Joven J, Fernández-Real JM, Quer JC, Valverde ÁM, Pardo A, Vendrell J, Ceperuelo-Mallafré V, Fernández-Veledo S
Metabolism 2023 Aug;145:155630. Epub 2023 Jun 13 doi: 10.1016/j.metabol.2023.155630. PMID: 37315889
Small Intestinal Bacterial Overgrowth and Non-Alcoholic Fatty Liver Disease: What Do We Know in 2023?
Gudan A, Kozłowska-Petriczko K, Wunsch E, Bodnarczuk T, Stachowska E
Nutrients 2023 Mar 8;15(6) doi: 10.3390/nu15061323. PMID: 36986052Free PMC Article
ESPEN micronutrient guideline.
Berger MM, Shenkin A, Schweinlin A, Amrein K, Augsburger M, Biesalski HK, Bischoff SC, Casaer MP, Gundogan K, Lepp HL, de Man AME, Muscogiuri G, Pietka M, Pironi L, Rezzi S, Cuerda C
Clin Nutr 2022 Jun;41(6):1357-1424. Epub 2022 Feb 26 doi: 10.1016/j.clnu.2022.02.015. PMID: 35365361
The Concept of Folic Acid in Health and Disease.
Shulpekova Y, Nechaev V, Kardasheva S, Sedova A, Kurbatova A, Bueverova E, Kopylov A, Malsagova K, Dlamini JC, Ivashkin V
Molecules 2021 Jun 18;26(12) doi: 10.3390/molecules26123731. PMID: 34207319Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Diagnosis

Protective effects of the succinate/SUCNR1 axis on damaged hepatocytes in NAFLD.
Marsal-Beltran A, Rodríguez-Castellano A, Astiarraga B, Calvo E, Rada P, Madeira A, Rodríguez-Peña MM, Llauradó G, Núñez-Roa C, Gómez-Santos B, Maymó-Masip E, Bosch R, Frutos MD, Moreno-Navarrete JM, Ramos-Molina B, Aspichueta P, Joven J, Fernández-Real JM, Quer JC, Valverde ÁM, Pardo A, Vendrell J, Ceperuelo-Mallafré V, Fernández-Veledo S
Metabolism 2023 Aug;145:155630. Epub 2023 Jun 13 doi: 10.1016/j.metabol.2023.155630. PMID: 37315889
ESPEN micronutrient guideline.
Berger MM, Shenkin A, Schweinlin A, Amrein K, Augsburger M, Biesalski HK, Bischoff SC, Casaer MP, Gundogan K, Lepp HL, de Man AME, Muscogiuri G, Pietka M, Pironi L, Rezzi S, Cuerda C
Clin Nutr 2022 Jun;41(6):1357-1424. Epub 2022 Feb 26 doi: 10.1016/j.clnu.2022.02.015. PMID: 35365361
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Magnetic resonance spectroscopy.
Gujar SK, Maheshwari S, Björkman-Burtscher I, Sundgren PC
J Neuroophthalmol 2005 Sep;25(3):217-26. doi: 10.1097/01.wno.0000177307.21081.81. PMID: 16148633
Congenital myasthenic syndromes.
Sieb JP, Kraner S, Steinlein OK
Semin Pediatr Neurol 2002 Jun;9(2):108-19. doi: 10.1053/spen.2002.33803. PMID: 12138995

Therapy

Hepatocyte-derived MASP1-enriched small extracellular vesicles activate HSCs to promote liver fibrosis.
Liu X, Tan S, Liu H, Jiang J, Wang X, Li L, Wu B
Hepatology 2023 Apr 1;77(4):1181-1197. Epub 2022 Aug 8 doi: 10.1002/hep.32662. PMID: 35849032
ESPEN micronutrient guideline.
Berger MM, Shenkin A, Schweinlin A, Amrein K, Augsburger M, Biesalski HK, Bischoff SC, Casaer MP, Gundogan K, Lepp HL, de Man AME, Muscogiuri G, Pietka M, Pironi L, Rezzi S, Cuerda C
Clin Nutr 2022 Jun;41(6):1357-1424. Epub 2022 Feb 26 doi: 10.1016/j.clnu.2022.02.015. PMID: 35365361
Cholinesterase inhibitors as Alzheimer's therapeutics (Review).
Sharma K
Mol Med Rep 2019 Aug;20(2):1479-1487. Epub 2019 Jun 11 doi: 10.3892/mmr.2019.10374. PMID: 31257471Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Choline: an essential nutrient for public health.
Zeisel SH, da Costa KA
Nutr Rev 2009 Nov;67(11):615-23. doi: 10.1111/j.1753-4887.2009.00246.x. PMID: 19906248Free PMC Article

Prognosis

Protective effects of the succinate/SUCNR1 axis on damaged hepatocytes in NAFLD.
Marsal-Beltran A, Rodríguez-Castellano A, Astiarraga B, Calvo E, Rada P, Madeira A, Rodríguez-Peña MM, Llauradó G, Núñez-Roa C, Gómez-Santos B, Maymó-Masip E, Bosch R, Frutos MD, Moreno-Navarrete JM, Ramos-Molina B, Aspichueta P, Joven J, Fernández-Real JM, Quer JC, Valverde ÁM, Pardo A, Vendrell J, Ceperuelo-Mallafré V, Fernández-Veledo S
Metabolism 2023 Aug;145:155630. Epub 2023 Jun 13 doi: 10.1016/j.metabol.2023.155630. PMID: 37315889
A Comparison of the Gene Expression Profiles of Non-Alcoholic Fatty Liver Disease between Animal Models of a High-Fat Diet and Methionine-Choline-Deficient Diet.
Alshawsh MA, Alsalahi A, Alshehade SA, Saghir SAM, Ahmeda AF, Al Zarzour RH, Mahmoud AM
Molecules 2022 Jan 27;27(3) doi: 10.3390/molecules27030858. PMID: 35164140Free PMC Article
Link between methyl nutrients and the DNA methylation process in the course of selected diseases in adults.
Łoboś P, Regulska-Ilow B
Rocz Panstw Zakl Hig 2021;72(2):123-136. doi: 10.32394/rpzh.2021.0157. PMID: 34114759
Choline and betaine in health and disease.
Ueland PM
J Inherit Metab Dis 2011 Feb;34(1):3-15. Epub 2010 May 6 doi: 10.1007/s10545-010-9088-4. PMID: 20446114
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858

Clinical prediction guides

ESPEN micronutrient guideline.
Berger MM, Shenkin A, Schweinlin A, Amrein K, Augsburger M, Biesalski HK, Bischoff SC, Casaer MP, Gundogan K, Lepp HL, de Man AME, Muscogiuri G, Pietka M, Pironi L, Rezzi S, Cuerda C
Clin Nutr 2022 Jun;41(6):1357-1424. Epub 2022 Feb 26 doi: 10.1016/j.clnu.2022.02.015. PMID: 35365361
Role of XBP1 in regulating the progression of non-alcoholic steatohepatitis.
Wang Q, Zhou H, Bu Q, Wei S, Li L, Zhou J, Zhou S, Su W, Liu M, Liu Z, Wang M, Lu L
J Hepatol 2022 Aug;77(2):312-325. Epub 2022 Mar 12 doi: 10.1016/j.jhep.2022.02.031. PMID: 35292349
The Concept of Folic Acid in Health and Disease.
Shulpekova Y, Nechaev V, Kardasheva S, Sedova A, Kurbatova A, Bueverova E, Kopylov A, Malsagova K, Dlamini JC, Ivashkin V
Molecules 2021 Jun 18;26(12) doi: 10.3390/molecules26123731. PMID: 34207319Free PMC Article
Endothelial GATA4 controls liver fibrosis and regeneration by preventing a pathogenic switch in angiocrine signaling.
Winkler M, Staniczek T, Kürschner SW, Schmid CD, Schönhaber H, Cordero J, Kessler L, Mathes A, Sticht C, Neßling M, Uvarovskii A, Anders S, Zhang XJ, von Figura G, Hartmann D, Mogler C, Dobreva G, Schledzewski K, Géraud C, Koch PS, Goerdt S
J Hepatol 2021 Feb;74(2):380-393. Epub 2020 Sep 9 doi: 10.1016/j.jhep.2020.08.033. PMID: 32916216
An improved mouse model that rapidly develops fibrosis in non-alcoholic steatohepatitis.
Matsumoto M, Hada N, Sakamaki Y, Uno A, Shiga T, Tanaka C, Ito T, Katsume A, Sudoh M
Int J Exp Pathol 2013 Apr;94(2):93-103. Epub 2013 Jan 11 doi: 10.1111/iep.12008. PMID: 23305254Free PMC Article

Recent systematic reviews

Maternal One-Carbon Metabolism during the Periconceptional Period and Human Foetal Brain Growth: A Systematic Review.
Rubini E, Baijens IMM, Horánszky A, Schoenmakers S, Sinclair KD, Zana M, Dinnyés A, Steegers-Theunissen RPM, Rousian M
Genes (Basel) 2021 Oct 17;12(10) doi: 10.3390/genes12101634. PMID: 34681028Free PMC Article
Cholinergic medication for antipsychotic-induced tardive dyskinesia.
Tammenmaa-Aho I, Asher R, Soares-Weiser K, Bergman H
Cochrane Database Syst Rev 2018 Mar 19;3(3):CD000207. doi: 10.1002/14651858.CD000207.pub2. PMID: 29553158Free PMC Article
Cholinergic medication for neuroleptic-induced tardive dyskinesia.
Tammenmaa IA, McGrath JJ, Sailas E, Soares-Weiser K
Cochrane Database Syst Rev 2002;(3):CD000207. doi: 10.1002/14651858.CD000207. PMID: 12137608

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