Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

Pronicki, Maciej; Piekutowska‐Abramczuk, Dorota; Jurkiewicz, Elżbieta; Rokicki, Dariusz; Ciara, Elżbieta; Trubicka, Joanna; Iwanicka‐Pronicka, Katarzyna; Pajdowska, Magdalena; Migdał, Marek; Grajkowska, Wiesława

doi:10.5114/fn.2017.68581

Cited by 4 publications

(6 citation statements)

References 18 publications

(40 reference statements)

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“…The clinical pictures in patients with infantile phenotypes were almost the same, all manifesting an acute devastating course during early months of life, with feeding difficulties, inconsolable crying or lethargy, loss of milestones. Respiratory failure and hypotonia were more common in patients of this group ( Yamada et al, 2010 ; Perez-Duenas et al, 2013 ; Gerards et al, 2013 ; Kevelam et al, 2013 ; Sremba et al, 2014 ; Ygberg et al, 2016 ; Alfadhel, 2017 ; Algahtani et al, 2017 ; Pronicki et al, 2017 ; Savasta et al, 2019 ). Wernicke’s-like encephalopathy was only described in two Japanese patients ( Kono et al, 2009 ).…”

Section: Discussionmentioning

confidence: 78%

“…Except five patients showed reduced activity of one or more complexes, and two showed reduced ATP synthesis, all the rest had no disturbance of respiratory chain complexes. All patients with anomalies of OXPHOS activity presented with infantile BTBGD or infantile Leigh-like syndrome, and six of seven deceased eventually ( Gerards et al, 2013 ; Kevelam et al, 2013 ; Haack et al, 2014 ; Ygberg et al, 2016 ; Pronicki et al, 2017 ).…”

Section: Resultsmentioning

confidence: 99%

“…Therefore, muscle or skin biopsy was recommended for distinguish diagnosis. Abnormal skin/muscle OXPHOS activities in a small part of patients usually led to infantile phenotypes and poor prognosis ( Gerards et al, 2013 ; Kevelam et al, 2013 ; Sremba et al, 2014 ; Ygberg et al, 2016 ; Pronicki et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

“…All patients presented with classical BTBGD. G23V was found in nine patients with different backgrounds (Arab, Canada, Poland, Italy, India, New Zealand), homozygous in six patients and compound heterozygous in three patients ( Ozand et al, 1998 ; Serrano et al, 2012 ; Kevelam et al, 2013 ; Pronicki et al, 2017 ; Whitford et al, 2017 ; Gowda et al, 2018 ; Tonduti et al, 2018 ). The age of onset was relative earlier (mean = 9.94 ± 2.25 months, 1 month–2 years).…”

Section: Discussionmentioning

confidence: 99%

“…Including our study, a total of 159 patients were diagnosed with THMD2 in 40 reports (Ozand et al, 1998;Adhisivam et al, 2007;El-Hajj et al, 2008;Bindu et al, 2009;Kono et al, 2009;Debs et al, 2010;Yamada et al, 2010;Serrano et al, 2012;Alfadhel et al, 2013;Fassone et al, 2013;Gerards et al, 2013;Kevelam et al, 2013;Perez-Duenas et al, 2013;Tabarki et al, 2013aTabarki et al, ,b, 2015Distelmaier et al, 2014;Haack et al, 2014;Kassem et al, 2014;Ortigoza-Escobar et al, 2014, 2017Schanzer et al, 2014;Sremba et al, 2014;Kohrogi et al, 2015;Aljabri et al, 2016;Bin Saeedan and Dogar, 2016;Bubshait et al, 2016;Flones et al, 2016;Schwarting et al, 2016;Ygberg et al, 2016;Alfadhel, 2017;Algahtani et al, 2017;Eichler et al, 2017;Pronicki et al, 2017;Whitford et al, 2017;Gowda et al, 2018;Tonduti et al, 2018;Savasta et al, 2019;Li et al, 2020). Thirteen patients were excluded, including 9 patients without genetic results and 4 patients without clinical information.…”

Section: Demographymentioning

confidence: 99%

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Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

Wang

Han

et al. 2021

Front. Genet.

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Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to improve the prognosis. So far, the reported cases were mainly from Saudi Arab regions, and presented with relatively simple clinical course because of the hot spot mutation (T422A). Rare Chinese cases were described until now. In this study, we investigated 18 Chinese THMD2 patients with variable phenotypes, and identified 23 novel SLC19A3 mutations, which expanded the genetic and clinical spectrum of the disorder. Meanwhile, we reviewed all 146 reported patients from different countries. Approximately 2/3 of patients presented with classical BTBGD, while 1/3 of patients manifested as much earlier onset and poor prognosis, including infantile Leigh-like syndrome, infantile spasms, neonatal lactic acidosis and infantile BTBGD. Literature review showed that elevated lactate in blood and CSF, as well as abnormal OXPHOS activities of muscle or skin usually correlated with infantile phenotypes, which indicated poor outcome. Brainstem involvement on MRI was more common in deceased cases. Thiamine supplementation is indispensable in the treatment of THMD2, whereas combination of biotin and thiamine is not superior to thiamine alone. But biotin supplementation does work in some patients. Genotypic-phenotypic correlation remains unclear which needs further investigation, and biallelic truncated mutations usually led to more severe phenotype.

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