ArticleAmerican journal of medical genetics. Part A2017
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Neuroimaging in Children With Inherited Metabolic Epilepsies.Neurology · 2025Review
- Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood-Brain Barrier.Clinical pharmacology and therapeutics · 2024Review
- Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.Journal of epilepsy research · 2023Article
- Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.Orphanet journal of rare diseases · 2023Article
- Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review.Neurology · 2023Review
- Recent advances in mitochondrial diseases: From molecular insights to therapeutic perspectives.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
- ClinicalNeuroradiology · 2022Review
- MR Neuroimaging in Pediatric Inborn Errors of Metabolism.Diagnostics (Basel, Switzerland) · 2022Review
- Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.Molecular genetics and metabolism reports · 2021Article
- Report of the Largest Chinese Cohort WithFrontiers in genetics · 2021Review
- Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.Annals of clinical and translational neurology · 2019Article
- [Paroxysmal crying and motor regression for more than two months in an infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Compound heterozygousCold Spring Harbor molecular case studies · 2017Article
- Biotin-Thiamine-Responsive Basal Ganglia Disease in Children: A Treatable Neurometabolic Disorder.Annals of Indian Academy of NeurologyReview
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Biotin-thiamine responsive basal ganglia disease is an inborn error of metabolism caused by mutations in SLC19A3, encoding a transporter of thiamine across the plasma membrane. We report a novel mutation identified in the homozygous state in a patient with typical brain MRI changes. In addition, this patient had markedly elevated CSF pyruvate, a low lactate-to-pyruvate molar ratio, and an abnormal pyruvate peak at 2.4 ppm on brain magnetic resonance spectroscopy. Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in SLC19A3 as 1 in 232 individuals in the general population, for an estimated prevalence of the disease of approximately 1 in 215,000 individuals. The disease is thus more frequent than previously recognized, and the presence of a pyruvate peak on spectroscopy could serve as an important diagnostic clue.
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