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Article

Vitamin B5 Monotherapy Improves Symptoms in a 7-Year-Old Girl With TANGO2 Deficiency Disorder.

American journal of medical genetics. Part A - 1 Apr 2025

Li Hua, Xu Zheng, Guo Jing, Zhang Peiqi, Dong Xiaoli, Zhao Liming

Abstract excerpt

TANGO2 deficiency disorder is often underdiagnosed and lacks an optimal treatment strategy. A 7-year-old Chinese girl presented with epilepsy, developmental delay, neuroregression, and episodes of dyskinesia. Additionally, she lapsed into a comatose state following her the last generalized tonic-clonic seizure. Trio whole-exome sequencing revealed compound heterozygous variants of the TANGO2 gene. Eventually, her...

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Identifiers

PMID: 39641377
DOI: 10.1002/ajmg.a.63938

Genes

TANGO2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Vitamin B5 Monotherapy Improves Symptoms in a 7-Year-Old Girl With TANGO2 Deficiency Disorder.PMID 39641377Read ↗

Vitamin B5 improves TANGO2 gene mutations associated defectsSemantic proximity Read ↗

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Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells.Semantic proximity Read ↗

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Vitamin B5, a Coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in <i>Drosophila</i> and human cellsSemantic proximity Read ↗

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