Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine

Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine

Abstract Huppke–Brendel syndrome (HBS) is an autosomal recessive disorder caused by SLC33A1 mutations, a gene coding for the acetyl‐CoA transporter‐1 (AT‐1). So far it has been described in nine pediatric and one adult patient. Therapeutic trials with copper histidinate failed to achieve any clinica...

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Main Authors: Katarina Šikić, Tessa M. A. Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Maša Davidović, Sanda Huljev Frković, Tibor Körmendy, Diego Martinelli, Antonio Novelli, Francesca Romana Lepri, Ron A. Wevers, Ivo Barić
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:JIMD Reports
Subjects:
acetylated amino acids
acetyl‐CoA transporter
Huppke–Brendel syndrome
ketogenic diet
N‐acetylcysteine
protein acetylation
Online Access:https://doi.org/10.1002/jmd2.12439
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https://doi.org/10.1002/jmd2.12439

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