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Article

Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency.

The Journal of clinical endocrinology and metabolism - 16 Sept 2024

Zung Amnon, Sonntag Niklas, Schweizer Ulrich, Banne Ehud, Braun Doreen

Abstract excerpt

CONTEXT: Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disease that leads to severe global developmental delay. MCT8 facilitates thyroid hormone (TH) transport across the cell membrane, and the serum TH profile is characterized by high T3 and low T4 levels. Recent studies have shown that the chemical chaperone sodium phenylbutyrate (NaPB) restored mutant MCT8 function and increased TH content...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38469646
DOI: 10.1210/clinem/dgae146

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TH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency.PMID 38469646Read ↗

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