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Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 VariantsFunding This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
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.
KeywordsTPK1 - episodic encephalopathy - thiamine-responsive disorder - genetic defect - thiamine metabolism dysfunction syndrome 5
Received: 24 December 2019
Accepted: 28 May 2020
21 October 2020 (online)
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