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Tang, P. LTBL. Encyclopedia. Available online: https://encyclopedia.pub/entry/6061 (accessed on 20 September 2026).
Tang P. LTBL. Encyclopedia. Available at: https://encyclopedia.pub/entry/6061. Accessed September 20, 2026.
Tang, Peter. "LTBL" Encyclopedia, https://encyclopedia.pub/entry/6061 (accessed September 20, 2026).
Tang, P. (2021, January 04). LTBL. In Encyclopedia. https://encyclopedia.pub/entry/6061
Tang, Peter. "LTBL." Encyclopedia. Web. 04 January, 2021.
LTBL
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic disorders called leukodystrophies, which feature abnormalities of the nervous system's white matter. White matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates nerve fibers and promotes the rapid transmission of nerve impulses.

genetic conditions

References

  1. Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D,Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C.Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathywith Thalamus and Brainstem Involvement and High Lactate (LTBL) in a PatientHarboring a Novel EARS2 Mutation. JIMD Rep. 2015;23:85-9. doi:10.1007/8904_2015_434.
  2. Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F. EARS2 mutations cause fatalneonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.Metab Brain Dis. 2016 Jun;31(3):717-21. doi: 10.1007/s11011-016-9793-2.
  3. Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS.Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL. Neuropediatrics. 2016 Jan;47(1):64-7. doi: 10.1055/s-0035-1568987.
  4. Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, BleyA, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt5):1387-94. doi: 10.1093/brain/aws070.
  5. Taskin BD, Karalok ZS, Gurkas E, Aydin K, Aydogmus U, Ceylaner S, Karaer K,Yilmaz C, Pearl PL. Early-Onset Mild Type Leukoencephalopathy Caused by aHomozygous EARS2 Mutation. J Child Neurol. 2016 Jun;31(7):938-41. doi:10.1177/0883073816630087.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
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Entry Collection: MedlinePlus
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Update Date: 04 Jan 2021
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