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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  
  • Inborn disorder of lysine and hydroxylysine metabolism

Professional guidelines

PubMed

Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
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
Diagnosis and management of glutaric aciduria type I--revised recommendations.
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
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
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

Increased susceptibility to quinolinic acid-induced seizures and long-term changes in brain oscillations in an animal model of glutaric acidemia type I.
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
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
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
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.
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
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
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
Glutaric acidemia type 1.
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

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
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
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
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
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
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
Diagnosis and management of glutaric aciduria type I--revised recommendations.
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
Glutaric acidemia type 1.
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

HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.
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
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.
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
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I.
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

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
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
HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.
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
Diagnosis and management of glutaric aciduria type I--revised recommendations.
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
Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
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
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
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

Increased susceptibility to quinolinic acid-induced seizures and long-term changes in brain oscillations in an animal model of glutaric acidemia type I.
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
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.
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
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.
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
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
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
Diagnosis and management of glutaric aciduria type I--revised recommendations.
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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