ArticleJournal of molecular neuroscience : MN2020
Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia.
Article in Journal of molecular neuroscience : MN, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 8 citations in OpenAlex.
- Identification of novel mutations inHeliyon · 2024Article
- Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.Frontiers in pediatrics · 2023Article
- Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.BMC neurology · 2022Article
- First Chinese patient with mental retardation-40 due to aExperimental and therapeutic medicine · 2021Article
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
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5 authors at 1 institution in 1 country.
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Abstract
TPK deficiency, also known as thiamine metabolism dysfunction syndrome 5, is a rare autosomal recessive disorder of inborn error of metabolism caused by TPK1 gene mutation. Its clinical manifestation is highly variable, ranging from spontaneous remission to fatal metabolic crisis. Here, we describe two affected siblings in a Chinese family presenting with recurrent episodes of acute ataxia. Whole exome sequencing identified a homozygous missense variant c.382C > T (p.Leu128Phe) in the TPK gene, which is located in the thiamine binding domain and affects a highly conserved amino acid. Besides, a review of the 18 previously reported patients provides a better understanding of the clinical and genetic features of this disorder. TPK deficiency may be an under-diagnosed cause of acute encephalopathy and ataxia. Given the potential benefit of early intervention, TPK deficiency should be considered in patients with episodic encephalopathy or ataxia, especially those associated with lactic acidosis and α-ketoglutaric aciduria. Significant decreased TPP in the blood is a strong hint of the disease. WES (whole exome sequencing) can help to further identify the molecular diagnosis.
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