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Inborn disorder of lysine and hydroxylysine metabolism

MedGen UID:
541359
Concept ID:
C0268552
Disease or Syndrome
Synonyms: Disorder of lysine and hydroxylysine metabolism; disorder of lysine and hydroxylysine metabolism; Disorder of lysine AND/OR hydroxylysine metabolism; inborn disorder of lysine and hydroxylysine metabolism; Lysine and hydroxylysine metabolism disorder
SNOMED CT: Disorder of lysine AND/OR hydroxylysine metabolism (77402005); Lysine and hydroxylysine metabolism disorder (237929000); Disorder of lysine and hydroxylysine metabolism (237929000)
 
Monarch Initiative: MONDO:0017351
Orphanet: ORPHA289832

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of lysine and hydroxylysine metabolism

Professional guidelines

PubMed

Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF
Pediatr Res 2006 Jun;59(6):840-7. Epub 2006 Apr 26 doi: 10.1203/01.pdr.0000219387.79887.86. PMID: 16641220

Recent clinical studies

Etiology

Barbieri Caus L, Pasquetti MV, Seminotti B, Woontner M, Wajner M, Calcagnotto ME
J Neurosci Res 2022 Apr;100(4):992-1007. Epub 2021 Oct 28 doi: 10.1002/jnr.24980. PMID: 34713466
Patel N, Mills P, Davison J, Cleary M, Gissen P, Banushi B, Doykov I, Dorman M, Mills K, Heywood WE
J Inherit Metab Dis 2020 Mar;43(2):309-317. Epub 2019 Oct 1 doi: 10.1002/jimd.12166. PMID: 31452203
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054
Popek M, Walter M, Fernando M, Lindner M, Schwab KO, Sass JO
Clin Chim Acta 2010 Dec 14;411(23-24):2087-91. Epub 2010 Sep 17 doi: 10.1016/j.cca.2010.09.006. PMID: 20836999
Hedlund GL, Longo N, Pasquali M
Am J Med Genet C Semin Med Genet 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. PMID: 16602100Free PMC Article

Diagnosis

Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors
J Inherit Metab Dis 2017 Jan;40(1):75-101. Epub 2016 Nov 16 doi: 10.1007/s10545-016-9999-9. PMID: 27853989
Radha Rama Devi A, Ramesh VA, Nagarajaram HA, Satish SP, Jayanthi U, Lingappa L
Brain Dev 2016 Jan;38(1):54-60. Epub 2015 Jun 10 doi: 10.1016/j.braindev.2015.05.013. PMID: 26071121
Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2012 Aug;106(4):430-8. Epub 2012 Jun 9 doi: 10.1016/j.ymgme.2012.05.024. PMID: 22728054
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Hedlund GL, Longo N, Pasquali M
Am J Med Genet C Semin Med Genet 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. PMID: 16602100Free PMC Article

Therapy

Li S, Lu J, Li J, Chen X, Yao X, Xi L
Mol Biosyst 2016 Feb;12(2):490-8. doi: 10.1039/c5mb00681c. PMID: 26661679
Burlina AP, Zara G, Hoffmann GF, Zschocke J, Burlina AB
J Inherit Metab Dis 2004;27(6):911-5. doi: 10.1023/B:BOLI.0000045776.50573.52. PMID: 15505399
Niiyama S, Koelker S, Degen I, Hoffmann GF, Happle R, Hoffmann R
Eur J Dermatol 2001 May-Jun;11(3):244-6. PMID: 11358733

Prognosis

Gelener P, Severino M, Diker S, Teralı K, Tuncel G, Tuzlalı H, Manara E, Paolacci S, Bertelli M, Ergoren MC
Neurogenetics 2020 Jul;21(3):179-186. Epub 2020 Apr 18 doi: 10.1007/s10048-020-00610-9. PMID: 32306145
Li S, Lu J, Li J, Chen X, Yao X, Xi L
Mol Biosyst 2016 Feb;12(2):490-8. doi: 10.1039/c5mb00681c. PMID: 26661679
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Popek M, Walter M, Fernando M, Lindner M, Schwab KO, Sass JO
Clin Chim Acta 2010 Dec 14;411(23-24):2087-91. Epub 2010 Sep 17 doi: 10.1016/j.cca.2010.09.006. PMID: 20836999
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF
Pediatr Res 2006 Jun;59(6):840-7. Epub 2006 Apr 26 doi: 10.1203/01.pdr.0000219387.79887.86. PMID: 16641220

Clinical prediction guides

Barbieri Caus L, Pasquetti MV, Seminotti B, Woontner M, Wajner M, Calcagnotto ME
J Neurosci Res 2022 Apr;100(4):992-1007. Epub 2021 Oct 28 doi: 10.1002/jnr.24980. PMID: 34713466
Ribeiro JV, Lucas TG, Bross P, Gomes CM, Henriques BJ
Biochim Biophys Acta Proteins Proteom 2020 Jan;1868(1):140269. Epub 2019 Sep 3 doi: 10.1016/j.bbapap.2019.140269. PMID: 31491587
Patel N, Mills P, Davison J, Cleary M, Gissen P, Banushi B, Doykov I, Dorman M, Mills K, Heywood WE
J Inherit Metab Dis 2020 Mar;43(2):309-317. Epub 2019 Oct 1 doi: 10.1002/jimd.12166. PMID: 31452203
Radha Rama Devi A, Ramesh VA, Nagarajaram HA, Satish SP, Jayanthi U, Lingappa L
Brain Dev 2016 Jan;38(1):54-60. Epub 2015 Jun 10 doi: 10.1016/j.braindev.2015.05.013. PMID: 26071121
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article

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