An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase deficiency (HMGLD) (OMIM 246450) is an autosomal recessive genetic disorder caused by homozygous or compound heterozygous variants in the HMGCL gene located on 1p36.11. Clinically, this disorder is characterized by a life-threatening metabolic intoxicat...

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Detalles Bibliográficos
Autores principales: Boutouchent, Nassim, Bourilhon, Julie, Sudrié-Arnaud, Bénédicte, Bonnevalle, Antoine, Guyant-Maréchal, Lucie, Acquaviva, Cécile, Dujardin-Ippolito, Loréna, Bekri, Soumeya, Dabaj, Ivana, Tebani, Abdellah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469356/
https://www.ncbi.nlm.nih.gov/pubmed/34573903
http://dx.doi.org/10.3390/diagnostics11091561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469356/
https://www.ncbi.nlm.nih.gov/pubmed/34573903
http://dx.doi.org/10.3390/diagnostics11091561

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