Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy
The modest biochemical response to a sulfur-restricted diet observed in our cohort likely reflects the relatively minor contribution of endogenous sulfur-containing amino acid catabolism to overall H<sub>2</sub>S production. Further work is needed to study the impact of dietary intervention on the natural history of EE including diet only trials in the animal model as well as in the pre-OLT period in human participants.
Authors
- Fernando Scaglia (ORCID: https://orcid.org/0000-0003-3502-8460)
- Sarah H. Elsea (ORCID: https://orcid.org/0000-0002-1400-8519)
- Charul Gijavanekar
- Mary Elizabeth M. Tessier (ORCID: https://orcid.org/0000-0002-0341-5442)
- Claudia Soler‐Alfonso (ORCID: https://orcid.org/0000-0002-0257-3684)
- Xia Wang (ORCID: https://orcid.org/0000-0001-6915-2588)
- Brandy Rawls-Castillo
- Matthew T. Snyder
- Steven Lang (ORCID: https://orcid.org/0000-0003-4369-7082)
- Aaron M. Williams (ORCID: https://orcid.org/0000-0003-2945-130X)
- Alfonso Salgado
Institutions
- Baylor College of Medicine (US)
- Prince of Wales Hospital (CN)
- Texas Children's Hospital (US)
- Baylor Genetics (US)
- University of Virginia (US)
- University of Hong Kong (HK)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-10-28
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101270
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00