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Inherited lipoic acid biosynthesis defect

MedGen UID:
1843250
Concept ID:
C5680006
Disease or Syndrome
Synonyms: inborn error of lipoate biosynthetic process; inborn lipoate biosynthetic process disorder; inherited lipoic acid biosynthesis defect; Lipoate biosynthesis defect; lipoate biosynthesis defect; lipoic acid biosynthesis defect; Lipoic acid biosynthesis defect; lipoic acid biosynthesis defects; rare inborn error of lipoate biosynthetic process
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0018424
Orphanet: ORPHA401854

Definition

An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited lipoic acid biosynthesis defect

Professional guidelines

PubMed

Tort F, Ferrer-Cortes X, Ribes A
J Inherit Metab Dis 2016 Nov;39(6):781-793. Epub 2016 Sep 1 doi: 10.1007/s10545-016-9975-4. PMID: 27586888

Recent clinical studies

Etiology

Lebigot E, Gaignard P, Dorboz I, Slama A, Rio M, de Lonlay P, Héron B, Sabourdy F, Boespflug-Tanguy O, Cardoso A, Habarou F, Ottolenghi C, Thérond P, Bouton C, Golinelli-Cohen MP, Boutron A
Mol Genet Metab 2017 Nov;122(3):85-94. Epub 2017 Aug 3 doi: 10.1016/j.ymgme.2017.08.001. PMID: 28803783
Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A
Am J Hum Genet 2015 Nov 5;97(5):761-8. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.09.013. PMID: 26522469Free PMC Article
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709
Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F
J Inherit Metab Dis 2013 Sep;36(5):841-7. Epub 2012 Nov 22 doi: 10.1007/s10545-012-9565-z. PMID: 23179554
Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H
J Inherit Metab Dis 2013 Jan;36(1):55-62. Epub 2012 May 5 doi: 10.1007/s10545-012-9489-7. PMID: 22562699

Diagnosis

Tort F, Ferrer-Cortes X, Ribes A
J Inherit Metab Dis 2016 Nov;39(6):781-793. Epub 2016 Sep 1 doi: 10.1007/s10545-016-9975-4. PMID: 27586888
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, Brassier A, Habarou F, Delahodde A, Correia I, Ottolenghi C, de Lonlay P
Mitochondrion 2014 Mar;15:59-64. Epub 2014 Jan 22 doi: 10.1016/j.mito.2014.01.003. PMID: 24462778
Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H
J Inherit Metab Dis 2013 Jan;36(1):55-62. Epub 2012 May 5 doi: 10.1007/s10545-012-9489-7. PMID: 22562699

Therapy

Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Goodyer PR, Lancaster GA
Pediatr Res 1984 Nov;18(11):1144-8. doi: 10.1203/00006450-198411000-00018. PMID: 6440113
Mendelson IS
J Ment Defic Res 1982 Jun;26 (Pt 2):107-10. doi: 10.1111/j.1365-2788.1982.tb00134.x. PMID: 6809951

Prognosis

Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A
Am J Hum Genet 2015 Nov 5;97(5):761-8. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.09.013. PMID: 26522469Free PMC Article
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Clinical prediction guides

Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P
Am J Hum Genet 2017 Aug 3;101(2):283-290. Epub 2017 Jul 27 doi: 10.1016/j.ajhg.2017.07.001. PMID: 28757203Free PMC Article
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

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