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Disorder of thiamine metabolism and transport

MedGen UID:
1842558
•Concept ID:
C5681092
•
Disease or Syndrome
Synonym: disorder of thiamine metabolism and transport
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017578
Orphanet: ORPHA298644

Professional guidelines

PubMed

Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B
Expert Rev Neurother 2016 Jul;16(7):755-63. Epub 2016 May 23 doi: 10.1080/14737175.2016.1187562. PMID: 27191787
The evolution and treatment of Korsakoff's syndrome: out of sight, out of mind?
Thomson AD, Guerrini I, Marshall EJ
Neuropsychol Rev 2012 Jun;22(2):81-92. Epub 2012 May 9 doi: 10.1007/s11065-012-9196-z. PMID: 22569770Free PMC Article
Treatment of liver disease of the alcoholic: a composite approach.
Leevy CM, Kanagasundaram N, Smith F
Semin Liver Dis 1981 Aug;1(3):254-66. doi: 10.1055/s-2008-1041752. PMID: 7051306

Recent clinical studies

Etiology

Therapies for mitochondrial diseases and current clinical trials.
El-Hattab AW, Zarante AM, Almannai M, Scaglia F
Mol Genet Metab 2017 Nov;122(3):1-9. Epub 2017 Sep 18 doi: 10.1016/j.ymgme.2017.09.009. PMID: 28943110Free PMC Article
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.
Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N
Curr Neurol Neurosci Rep 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. PMID: 27074771
Sudden infant death syndrome and abnormal metabolism of thiamin.
Lonsdale D
Med Hypotheses 2015 Dec;85(6):922-6. Epub 2015 Sep 14 doi: 10.1016/j.mehy.2015.09.009. PMID: 26455416
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709
Sulfur-containing compounds in protecting against oxidant-mediated lung diseases.
Pappa A, Franco R, Schoneveld O, Galanis A, Sandaltzopoulos R, Panayiotidis MI
Curr Med Chem 2007;14(24):2590-6. doi: 10.2174/092986707782023262. PMID: 17979712

Diagnosis

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B
J Inherit Metab Dis 2019 Jul;42(4):581-597. Epub 2019 Jun 24 doi: 10.1002/jimd.12125. PMID: 31095747
Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B
Expert Rev Neurother 2016 Jul;16(7):755-63. Epub 2016 May 23 doi: 10.1080/14737175.2016.1187562. PMID: 27191787
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709
Peripheral systems: neuropathy.
Maiya RP, Messing RO
Handb Clin Neurol 2014;125:513-25. doi: 10.1016/B978-0-444-62619-6.00029-X. PMID: 25307593
Decoding Alzheimer's disease from perturbed cerebral glucose metabolism: implications for diagnostic and therapeutic strategies.
Chen Z, Zhong C
Prog Neurobiol 2013 Sep;108:21-43. Epub 2013 Jul 11 doi: 10.1016/j.pneurobio.2013.06.004. PMID: 23850509

Therapy

The Influence of Alcohol Consumption on Intestinal Nutrient Absorption: A Comprehensive Review.
Butts M, Sundaram VL, Murughiyan U, Borthakur A, Singh S
Nutrients 2023 Mar 24;15(7) doi: 10.3390/nu15071571. PMID: 37049411Free PMC Article
Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B
Expert Rev Neurother 2016 Jul;16(7):755-63. Epub 2016 May 23 doi: 10.1080/14737175.2016.1187562. PMID: 27191787
Defects of thiamine transport and metabolism.
Brown G
J Inherit Metab Dis 2014 Jul;37(4):577-85. Epub 2014 May 1 doi: 10.1007/s10545-014-9712-9. PMID: 24789339
Iatrogenic nutritional deficiencies.
Young RC, Blass JP
Annu Rev Nutr 1982;2:201-27. doi: 10.1146/annurev.nu.02.070182.001221. PMID: 6764730
Vitamin-responsive inherited metabolic disorders.
Rosenberg LE
Adv Hum Genet 1976;6:1-74. doi: 10.1007/978-1-4615-8264-9_1. PMID: 779426

Prognosis

The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Enogieru OJ, Koleske ML, Vora B, Ngo H, Yee SW, Chatad D, Sirota M, Giacomini KM
AAPS J 2021 Mar 1;23(2):35. doi: 10.1208/s12248-021-00562-4. PMID: 33649974Free PMC Article
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
Porta F, Siri B, Chiesa N, Ricci F, Nika L, Sciortino P, Spada M
J Pediatr Endocrinol Metab 2021 Feb 23;34(2):261-266. Epub 2020 Nov 19 doi: 10.1515/jpem-2020-0139. PMID: 33544541
Serum Metabolomics Reveals Personalized Metabolic Patterns for Macular Neovascular Disease Patient Stratification.
Liu K, Fang J, Jin J, Zhu S, Xu X, Xu Y, Ye B, Lin SH, Xu X
J Proteome Res 2020 Feb 7;19(2):699-707. Epub 2020 Jan 9 doi: 10.1021/acs.jproteome.9b00574. PMID: 31755721
Therapies for mitochondrial diseases and current clinical trials.
El-Hattab AW, Zarante AM, Almannai M, Scaglia F
Mol Genet Metab 2017 Nov;122(3):1-9. Epub 2017 Sep 18 doi: 10.1016/j.ymgme.2017.09.009. PMID: 28943110Free PMC Article
Astrocytes are a major target in thiamine deficiency and Wernicke's encephalopathy.
Hazell AS
Neurochem Int 2009 Jul-Aug;55(1-3):129-35. Epub 2009 Mar 9 doi: 10.1016/j.neuint.2009.02.020. PMID: 19428817

Clinical prediction guides

The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Enogieru OJ, Koleske ML, Vora B, Ngo H, Yee SW, Chatad D, Sirota M, Giacomini KM
AAPS J 2021 Mar 1;23(2):35. doi: 10.1208/s12248-021-00562-4. PMID: 33649974Free PMC Article
Organic Cation Transporters in Health and Disease.
Koepsell H
Pharmacol Rev 2020 Jan;72(1):253-319. doi: 10.1124/pr.118.015578. PMID: 31852803
Impairment of Thiamine Transport at the GUT-BBB-AXIS Contributes to Wernicke's Encephalopathy.
Abdul-Muneer PM, Alikunju S, Schuetz H, Szlachetka AM, Ma X, Haorah J
Mol Neurobiol 2018 Jul;55(7):5937-5950. Epub 2017 Nov 11 doi: 10.1007/s12035-017-0811-0. PMID: 29128903Free PMC Article
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.
Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N
Curr Neurol Neurosci Rep 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. PMID: 27074771
Vitamin transport and homeostasis in mammalian brain: focus on Vitamins B and E.
Spector R, Johanson CE
J Neurochem 2007 Oct;103(2):425-38. Epub 2007 Jul 20 doi: 10.1111/j.1471-4159.2007.04773.x. PMID: 17645457

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