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

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Episodic encephalopathy linked to thiamine pyrophosphokinase 1 (TPK1) gene mutations is a rare, autosomal recessive metabolic disorder.
• Typically presents in early childhood with acute encephalopathic episodes leading to progressive neurological dysfunction (ataxia, dystonia, spasticity).

Observation:

• A case report of an infant diagnosed with TPK1 deficiency (compound heterozygosity for known pathogenic variants).
• The infant experienced two encephalopathic episodes.
• Clinical stabilization was achieved with oral thiamine and biotin supplementation.

Findings:

• The patient exhibited near-normal psychomotor development, contrasting with previously reported cases.
• This favorable outcome may be attributed to early diagnosis and prompt therapeutic intervention.

Implications:

• Highlights the potential efficacy of early diagnosis and combined thiamine and biotin therapy for TPK1 deficiency.
• Suggests that timely intervention can significantly alter the neurodevelopmental trajectory in affected infants.
• Underscores the importance of genetic testing and metabolic screening for unexplained encephalopathic presentations in infancy.