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

Neuropediatrics. 2021 Apr;52(2):123-125. doi: 10.1055/s-0040-1715631. Epub 2020 Oct 21.


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.

Publication types

  • Case Reports

MeSH terms

  • Biotin / administration & dosage
  • Brain Diseases, Metabolic, Inborn / diet therapy*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / physiopathology
  • Dietary Supplements
  • Humans
  • Infant
  • Thiamin Pyrophosphokinase / deficiency*
  • Thiamine / administration & dosage
  • Thiamine / pharmacology*
  • Vitamin B Complex / administration & dosage
  • Vitamin B Complex / pharmacology*


  • Vitamin B Complex
  • Biotin
  • Thiamin Pyrophosphokinase
  • Thiamine