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Mitochondrial lysine transport defect

MedGen UID:
870274
Concept ID:
C4024715
Finding
HPO: HP:0008265

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial lysine transport defect

Conditions with this feature

Hyperlysinemia due to defect in lysine transport into mitochondria
MedGen UID:
341010
Concept ID:
C1855927
Disease or Syndrome

Professional guidelines

PubMed

Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018

Recent clinical studies

Etiology

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Wagner GR, Pride PM, Babbey CM, Payne RM
Hum Mol Genet 2012 Jun 15;21(12):2688-97. Epub 2012 Mar 6 doi: 10.1093/hmg/dds095. PMID: 22394676Free PMC Article
Noland RC, Koves TR, Seiler SE, Lum H, Lust RM, Ilkayeva O, Stevens RD, Hegardt FG, Muoio DM
J Biol Chem 2009 Aug 21;284(34):22840-52. Epub 2009 Jun 24 doi: 10.1074/jbc.M109.032888. PMID: 19553674Free PMC Article
Gregersen N
J Inherit Metab Dis 1985;8 Suppl 1:65-9. doi: 10.1007/BF01800662. PMID: 3930843

Diagnosis

Almannai M, Alfadhel M, El-Hattab AW
Molecules 2019 Sep 6;24(18) doi: 10.3390/molecules24183251. PMID: 31500110Free PMC Article
Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H
Hum Mutat 2019 Oct;40(10):1826-1840. Epub 2019 Jun 18 doi: 10.1002/humu.23799. PMID: 31116475
Rajasekaran R, Felser A, Nuoffer JM, Dufour JF, St-Pierre MV
FASEB J 2018 Sep;32(9):5143-5161. Epub 2018 Apr 18 doi: 10.1096/fj.201701429R. PMID: 29913563
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Lee CF, Chavez JD, Garcia-Menendez L, Choi Y, Roe ND, Chiao YA, Edgar JS, Goo YA, Goodlett DR, Bruce JE, Tian R
Circulation 2016 Sep 20;134(12):883-94. Epub 2016 Aug 3 doi: 10.1161/CIRCULATIONAHA.116.022495. PMID: 27489254Free PMC Article

Therapy

Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Pekala J, Patkowska-Sokoła B, Bodkowski R, Jamroz D, Nowakowski P, Lochyński S, Librowski T
Curr Drug Metab 2011 Sep;12(7):667-78. doi: 10.2174/138920011796504536. PMID: 21561431
Stanley CA
Ann N Y Acad Sci 2004 Nov;1033:42-51. doi: 10.1196/annals.1320.004. PMID: 15591002
Gregersen N
J Inherit Metab Dis 1985;8 Suppl 1:65-9. doi: 10.1007/BF01800662. PMID: 3930843
Gilbert EF
Pathology 1985 Apr;17(2):161-71. doi: 10.3109/00313028509063752. PMID: 3900894

Prognosis

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Noland RC, Koves TR, Seiler SE, Lum H, Lust RM, Ilkayeva O, Stevens RD, Hegardt FG, Muoio DM
J Biol Chem 2009 Aug 21;284(34):22840-52. Epub 2009 Jun 24 doi: 10.1074/jbc.M109.032888. PMID: 19553674Free PMC Article
Laforêt P, Lombès A, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P, Fardeau M
Neuromuscul Disord 1995 Sep;5(5):399-413. doi: 10.1016/0960-8966(94)00080-s. PMID: 7496174

Clinical prediction guides

Guhathakurta S, Erdogdu NU, Hoffmann JJ, Grzadzielewska I, Schendzielorz A, Seyfferth J, Mårtensson CU, Corrado M, Karoutas A, Warscheid B, Pfanner N, Becker T, Akhtar A
Nat Metab 2023 Nov;5(11):1931-1952. Epub 2023 Oct 9 doi: 10.1038/s42255-023-00904-w. PMID: 37813994Free PMC Article
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Zhang Y, Bharathi SS, Rardin MJ, Lu J, Maringer KV, Sims-Lucas S, Prochownik EV, Gibson BW, Goetzman ES
J Biol Chem 2017 Jun 16;292(24):10239-10249. Epub 2017 Apr 30 doi: 10.1074/jbc.M117.785022. PMID: 28458255Free PMC Article
Lee CF, Chavez JD, Garcia-Menendez L, Choi Y, Roe ND, Chiao YA, Edgar JS, Goo YA, Goodlett DR, Bruce JE, Tian R
Circulation 2016 Sep 20;134(12):883-94. Epub 2016 Aug 3 doi: 10.1161/CIRCULATIONAHA.116.022495. PMID: 27489254Free PMC Article
Lucas TG, Henriques BJ, Rodrigues JV, Bross P, Gregersen N, Gomes CM
Biochim Biophys Acta 2011 Dec;1812(12):1658-63. Epub 2011 Sep 24 doi: 10.1016/j.bbadis.2011.09.009. PMID: 21968293

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