Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

Abstract

Episodic encephalopathy due to mutations in the thiamine pyrophosphokinase 1 (TPK1) gene is a rare autosomal recessive metabolic disorder. Patients reported so far have onset in early childhood of acute encephalopathic episodes, which result in a progressive neurologic dysfunction including ataxia, dystonia, and spasticity. Here, we report the case of an infant with TPK1 deficiency (compound heterozygosity for two previously described pathogenic variants) presenting with two encephalopathic episodes and clinical stabilization under oral thiamine and biotin supplementation. In contrast to other reported cases, our patient showed an almost normal psychomotor development, which might be due to an early diagnosis and subsequent therapy.

Keywords

TPK1 - episodic encephalopathy - thiamine-responsive disorder - genetic defect - thiamine metabolism dysfunction syndrome 5

Publikationsverlauf

Eingereicht: 24. Dezember 2019

Angenommen: 28. Mai 2020

Artikel online veröffentlicht:
21. Oktober 2020

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