3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

3‐Methylglutaconyl‐CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3‐methylglutaconate, with or without 3‐hydroxyisovalerate and 3‐methylglutarate. It is an ultra‐rare condition, with <30 cases published in the literature. It is unclear...

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Detalles Bibliográficos
Autores principales: Hertzog, Ashley, Selvanathan, Arthavan, Pandithan, Dinusha, Kim, Won‐Tae, Kava, Maina P., Boneh, Avihu, Coman, David, Tolun, Adviye Ayper, Bhattacharya, Kaustuv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626669/
https://www.ncbi.nlm.nih.gov/pubmed/36341175
http://dx.doi.org/10.1002/jmd2.12332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626669/
https://www.ncbi.nlm.nih.gov/pubmed/36341175
http://dx.doi.org/10.1002/jmd2.12332

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