Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease

Kılıç, Betül; Topçu, Yasemin; Dursun, Şiar; Erol, İlknur; Dolu, Merve Hilal; Taşdemir, Haydar Ali; Aydın, Kürşad

doi:10.1016/j.braindev.2020.05.008

Cited by 3 publications

(8 citation statements)

References 20 publications

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“…However, the early infantile form uniformly carries a poor prognosis. 2 3 Our case highlights the clinical details of a neonate diagnosed with early infantile BTBGD, the seventh to be reported in literature and the first from India. 2 3…”

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confidence: 73%

“…However, the early infantile form uniformly carries a poor prognosis. 2,3 Our case highlights the clinical details of a neonate diagnosed with early infantile BTBGD, the seventh to be reported in literature and the first from India. 2,3 A female child, second born to a nonconsanguineous Asian couple, was delivered through caesarean section due to cephalopelvic disproportion.…”

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confidence: 75%

“…2 Two additional cases of early-onset BTBGD were described recently in a case series of seven patients. 3 The prognosis of the early infantile BTBGD has been uniformly poor. Among the six cases described, three were instituted timely supplementation; however, one still died early on day 42 of life.…”

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confidence: 99%

“…2 Two additional cases of early-onset BTBGD were described recently in a case series of seven patients. 3…”

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confidence: 99%

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Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate

Bajaj¹,

Vatkar²,

Barot³

et al. 2022

Journal of Child Science

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confidence: 73%

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confidence: 75%

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confidence: 99%

“…2 Two additional cases of early-onset BTBGD were described recently in a case series of seven patients. 3…”

mentioning

confidence: 99%

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Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate

Bajaj¹,

Vatkar²,

Barot³

et al. 2022

Journal of Child Science

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“…Treatment before the onset of encephalopathy is required to attain better neurological outcomes. Moreover, elucidation of biomarkers for BBGD may provide a screening method and improve outcomes [13][14][15][16][17][18][19] .…”

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confidence: 99%

A Japanese patient with neonatal biotin-responsive basal ganglia disease

et al. 2022

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Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD case with sudden-onset feeding difficulty and impaired consciousness. Encephalopathy resolved after the initiation of biotin and thiamine treatment. Genetic testing revealed a novel heterozygous mutation [c.384_387del, p.Tyr128fs];[c.265 A > C, p.Ser89Arg] in SLC19A3. Early treatment for BBGD is essential, especially with onset in the neonatal or early infancy period.

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Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease

2023

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Biotin thiamine responsive basal ganglia disease (BTRBGD) is an inherited autosomal recessive disorder that results from the inability of thiamine to cross the blood brain barrier.1-3It is considered a treatable condition if vitamin supplementation, most commonly with thiamine and biotin, is initiated early.2BTRBGD can present as an infantile form, classical childhood form, or adult Wernicke-like encephalopathy.3The infantile form is often the most severe and portends a worse prognosis with high mortality despite vitamin supplementation. We present a two-month-old who presented with irritability, opisthotonos, and abnormal eye movements who was found to have compound heterozygous variants in the SLC19A3 gene inherited in trans, including one known pathogenic intronic variant and a novel variant presumed to be pathogenic. She was therefore diagnosed with infantile BTRBGD. In this report, we discuss the differential for infantile BTRBGD, the clinical and radiologic features of BTRBGD, and describe a rapid, positive response to early vitamin supplementation in an infant with a likely pathogenic novel variant in SLC19A3.

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Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease

Cited by 3 publications

References 20 publications

Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate

Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate

A Japanese patient with neonatal biotin-responsive basal ganglia disease

Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease

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