RATIONALE: Allan-Herndon-Dudley syndrome (monocarboxylate transporter 8 deficiency) is an X-linked disorder caused by pathogenic variants in SLC16A2, with severe neurodevelopmental impairment and a characteristic high-triiodothyronine (T3)/low-thyroxine (T4) thyroid profile. SLC16A2 c.1384G> A (p.Gly462Arg; NM_006517.5) was reported previously. We describe a Chinese family with the same variant, including retrospective molecular confirmation in a deceased maternal half brother.
Source: PubMed - functional seizures
·Published 06 Nov 2026 ·Imported 07 Nov 2026
Relevancy: Not reviewed
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