Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings

Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited organic acidemia characterized by macrocephal...

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Auteurs principaux:	Pradeep Raj Regmi, MD, Aalok Kumar Yadav, MD, Bibek Koirala, MD, Shreelal Yadav, MD, Suraj Shrestha, MBBS
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2024-09-01
Collection:	Radiology Case Reports
Sujets:	Glutaric aciduria type 1 Glutaryl-CoA dehydrogenase Magnetic resonance imaging
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S1930043324004370
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