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Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.
Pediatrics. 2013 May; 131(5):e1670-5.Ped

Abstract

Thiamine transporter-2 deficiency is a recessive disease caused by mutations in the SLC19A3 gene. Patients manifest acute episodes of encephalopathy; symmetric lesions in the cortex, basal ganglia, thalami or periaqueductal gray matter, and a dramatic response to biotin or thiamine. We report a 30-day-old patient with mutations in the SLC19A3 gene who presented with acute encephalopathy and increased level of lactate in the blood (8.6 mmol/L) and cerebrospinal fluid (7.12 mmol/L), a high excretion of α-ketoglutarate in the urine, and increased concentrations of the branched-chain amino acids leucine and isoleucine in the plasma. MRI detected bilateral and symmetric cortico-subcortical lesions involving the perirolandic area, bilateral putamina, and medial thalami. Some lesions showed low apparent diffusion coefficient values suggesting an acute evolution; others had high values likely to be subacute or chronic, most likely related to the perinatal period. After treatment with thiamine and biotin, irritability and opisthotonus disappeared, and the patient recovered consciousness. Biochemical disturbances also disappeared within 48 hours. After discontinuing biotin, the patient remained stable for 6 months on thiamine supplementation (20 mg/kg/day). The examination revealed subtle signs of neurologic sequelae, and MRI showed necrotic changes and volume loss in some affected areas. Our observations suggest that patients with thiamine transporter 2 deficiency may be vulnerable to metabolic decompensation during the perinatal period, when energy demands are high. Thiamine defects should be excluded in newborns and infants with lactic acidosis because prognosis largely depends on the time from diagnosis to thiamine supplementation.

Authors+Show Affiliations

Department of Child Neurology , Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain. bperez@hsjdbcn.orgNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23589815

Citation

Pérez-Dueñas, Belén, et al. "Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency." Pediatrics, vol. 131, no. 5, 2013, pp. e1670-5.
Pérez-Dueñas B, Serrano M, Rebollo M, et al. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013;131(5):e1670-5.
Pérez-Dueñas, B., Serrano, M., Rebollo, M., Muchart, J., Gargallo, E., Dupuits, C., & Artuch, R. (2013). Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics, 131(5), e1670-5. https://doi.org/10.1542/peds.2012-2988
Pérez-Dueñas B, et al. Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency. Pediatrics. 2013;131(5):e1670-5. PubMed PMID: 23589815.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. AU - Pérez-Dueñas,Belén, AU - Serrano,Mercedes, AU - Rebollo,Mónica, AU - Muchart,Jordi, AU - Gargallo,Eva, AU - Dupuits,Celine, AU - Artuch,Rafael, Y1 - 2013/04/15/ PY - 2013/4/17/entrez PY - 2013/4/17/pubmed PY - 2013/7/19/medline KW - Leigh syndrome lactic acidosis KW - SLC19A3 gene KW - biotin KW - mitochondrial encephalopathy KW - perinatal brain injury KW - thiamine KW - thiamine transporter-2 SP - e1670 EP - 5 JF - Pediatrics JO - Pediatrics VL - 131 IS - 5 N2 - Thiamine transporter-2 deficiency is a recessive disease caused by mutations in the SLC19A3 gene. Patients manifest acute episodes of encephalopathy; symmetric lesions in the cortex, basal ganglia, thalami or periaqueductal gray matter, and a dramatic response to biotin or thiamine. We report a 30-day-old patient with mutations in the SLC19A3 gene who presented with acute encephalopathy and increased level of lactate in the blood (8.6 mmol/L) and cerebrospinal fluid (7.12 mmol/L), a high excretion of α-ketoglutarate in the urine, and increased concentrations of the branched-chain amino acids leucine and isoleucine in the plasma. MRI detected bilateral and symmetric cortico-subcortical lesions involving the perirolandic area, bilateral putamina, and medial thalami. Some lesions showed low apparent diffusion coefficient values suggesting an acute evolution; others had high values likely to be subacute or chronic, most likely related to the perinatal period. After treatment with thiamine and biotin, irritability and opisthotonus disappeared, and the patient recovered consciousness. Biochemical disturbances also disappeared within 48 hours. After discontinuing biotin, the patient remained stable for 6 months on thiamine supplementation (20 mg/kg/day). The examination revealed subtle signs of neurologic sequelae, and MRI showed necrotic changes and volume loss in some affected areas. Our observations suggest that patients with thiamine transporter 2 deficiency may be vulnerable to metabolic decompensation during the perinatal period, when energy demands are high. Thiamine defects should be excluded in newborns and infants with lactic acidosis because prognosis largely depends on the time from diagnosis to thiamine supplementation. SN - 1098-4275 UR - https://www.unboundmedicine.com/medline/citation/23589815/Reversible_lactic_acidosis_in_a_newborn_with_thiamine_transporter_2_deficiency_ L2 - http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=23589815 DB - PRIME DP - Unbound Medicine ER -