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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).
Autosomal recessive inheritance (Orphanet)
 
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

Differential diagnosis of lipoic acid synthesis defects.
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

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
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
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
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
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
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
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
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
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
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

Differential diagnosis of lipoic acid synthesis defects.
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
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
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
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chrétien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P
Orphanet J Rare Dis 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192. PMID: 24341803Free PMC Article
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
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

Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Inherited lactic acidosis: correction of the defect in cultured fibroblasts.
Goodyer PR, Lancaster GA
Pediatr Res 1984 Nov;18(11):1144-8. doi: 10.1203/00006450-198411000-00018. PMID: 6440113
A strategy for glycine encephalopathy therapy.
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

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
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
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Clinical prediction guides

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
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
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

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