Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned

Autor: Hsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, Chelsea Zimmerman, Danielle DeMarzo, Anne Chun-Hui Tsai

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100942- (2022)

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder with varying presentations. Patients with a neonatal-onset phenotype are initially healthy but develop severe hyperammonemia days after birth and often h

Externí odkaz: https://doaj.org/article/27486de32557496ba30b190a713d7219

Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Autor: Agnès Delahodde, Luc Nonnenmacher, Laurence Hubert, Yohan Soreze, A. Boutron, Florence Habarou, Hélène Delpech, Patrick Nitschke, Nathalie Boddaert, Chris Ottolenghi, Dominique Chretien, Christine Barnerias, Christine Bole-Feysot, Asmaa Mamoune, Claude Sardet, Pascale de Lonlay, Isabelle Correia, Yamina Hamel

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.192. 〈10.1186/1750-1172-8-192〉
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.192. ⟨10.1186/1750-1172-8-192⟩
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.192. ⟨10.1186/1750-1172-8-192⟩

International audience; BACKGROUND: Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved in the lipoic acid de novo pathway have recently been described, but no mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::203f270af3d3537aa5b7a0a058cf174f
https://doi.org/10.1186/1750-1172-8-192

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