Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.

Abstract

The product of thiamine phosphokinase is the cofactor for many enzymes, including the dehydrogenases of pyruvate, 2-ketoglutarate and branched chain ketoacids. Its deficiency has recently been described in a small number of patients, some of whom had a Leigh syndrome phenotype. The patient who also had a Leigh phenotype was initially found to have a low concentration of biotin in plasma and massive urinary excretion of biotin. Despite treatment with biotin and thiamine, her disease was progressive. Mutations c.311delG and c.426G > C were found in the TPK1 gene.

• Authors: William L Nyhan, Karen McGowan, Bruce A Barshop
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 499 Pg. 13-15 (Dec 2019) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 31404531 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2019 Elsevier B.V. All rights reserved.

Chemical References

• Biotin
• Thiamin Pyrophosphokinase
• Thiamine

Topics

• Adult
• Basal Ganglia Diseases (genetics, metabolism, pathology)
• Biotin (blood, therapeutic use, urine)
• Female
• Humans
• Mutation
• Phenotype
• Thiamin Pyrophosphokinase (deficiency, genetics, metabolism)
• Thiamine (therapeutic use)