TPK1 -Related Thiamine Metabolism Dysfunction Syndrome

CLINICAL CHARACTERISTICS: TPK1 -related thiamine metabolism dysfunction syndrome (TPK1 deficiency) is characterized by mild to profound developmental delay and intellectual disability with or without regression, dystonia, episodes of encephalopathy, spasticity, ataxia, seizures, and abnormal muscle tone....

No actionable change for most audiologists; however, clinicians seeing pediatric patients with unexplained sensorineural hearing loss alongside neurological or metabolic symptoms should be aware that TPK1 deficiency can include auditory involvement, warranting referral to a metabolic specialist.

Awareness of rare metabolic disorders like TPK1 deficiency is important for audiologists who may be among the first clinicians to identify unexplained hearing loss in children with underlying syndromic or metabolic etiologies.

1. 01TPK1 deficiency is a rare autosomal recessive disorder affecting thiamine (vitamin B1) metabolism.
2. 02Clinical features include progressive neurodegeneration, dystonia, and episodic crises, with possible auditory involvement.
3. 03GeneReviews 2026 provides a comprehensive clinical reference for diagnosis and management.
4. 04Early recognition is critical, as thiamine supplementation may partially stabilize some patients.
5. 05The condition is relevant to audiologists when pediatric hearing loss occurs alongside unexplained neurological signs.

PMID

42335246

Journal

GeneReviews (NCBI Bookshelf)

Publication type

review

Evidence level

5

Population

Patients with TPK1-related thiamine metabolism dysfunction syndrome (rare pediatric inherited metabolic disorder)

Intervention

Clinical characterization and management guidance for TPK1 deficiency