lactic acid has been researched along with CACH Syndrome in 36 studies
Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Hypoglycemia is a common iatrogenic consequence of type 1 diabetes therapy that can lead to central nervous system injury and even death if untreated." | 1.51 | Hypothermic neuroprotection during reperfusion following exposure to aglycemia in central white matter is mediated by acidification. ( Brown, AM; Evans, RD; Ransom, BR; Rich, LR; Smith, PA, 2019) |
| "The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey." | 1.48 | The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. ( Arıcan, P; Çavuşoğlu, D; Gençpınar, P; Olgaç-Dündar, N; Özdemir, TR; Öztekin, Ö, 2018) |
| "Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure." | 1.43 | A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). ( Aydın, K; Dilber, C; Güngör, G; Güngör, O; Özkaya, AK; Şahin, Y, 2016) |
| "Clinical presentation included subacute spastic paraplegia with partial improvement on steroids." | 1.42 | DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. ( Abbink, TE; Kister, I; Latif, KA; Leventer, R; Pizzino, A; Simons, C; Taft, RJ; Toro, C; van der Knaap, MS; Vanderver, A; Wolf, NI, 2015) |
| "Hypoglycemia is a common adverse event and can injure central nervous system (CNS) white matter (WM)." | 1.40 | Novel hypoglycemic injury mechanism: N-methyl-D-aspartate receptor-mediated white matter damage. ( Brown, AM; Chen, S; Evans, RD; Hamner, MA; Ransom, BR; Yang, X; Ye, ZC, 2014) |
| "LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction." | 1.38 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. ( Dooves, S; Polder, E; Scheper, GC; van Berge, L; van Berkel, CG; van der Knaap, MS, 2012) |
| "These patients represent a single novel leukoencephalopathy,probably caused by a mitochondrial defect." | 1.38 | Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. ( Barkhof, F; Ceulemans, B; Fattal-Valevski, A; Pouwels, PJ; Prabhakar, P; Régal, L; Richer, L; Rodenburg, RJ; Simonetti, BG; Steenweg, ME; van der Knaap, MS; Vanderver, A, 2012) |
| "Here, the authors present a case of leukoencephalopathy with brainstem and spinal cord involvement with normal brain lactate, in which genetic analysis revealed a new mutation in the DARS2 gene not previously described." | 1.36 | Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. ( Chiconelli Faria, E; Da Rocha, AJ; Lin, J; Pereira Vilanova, LC; Rodrigues Masruha, M; Scheper, GC; Van der Knaap, MS, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (2.78) | 29.6817 |
| 2010's | 29 (80.56) | 24.3611 |
| 2020's | 6 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Wongkittichote, P | 1 |
| Magistrati, M | 1 |
| Shimony, JS | 1 |
| Smyser, CD | 1 |
| Fatemi, SA | 1 |
| Fine, AS | 1 |
| Bellacchio, E | 1 |
| Dallabona, C | 1 |
| Shinawi, M | 1 |
| Zhang, A | 1 |
| Lu, J | 1 |
| Xiao, F | 1 |
| Friederich, MW | 1 |
| Perez, FA | 1 |
| Knight, KM | 1 |
| Van Hove, RA | 1 |
| Yang, SP | 1 |
| Saneto, RP | 1 |
| Van Hove, JLK | 1 |
| Rumyantseva, A | 1 |
| Motori, E | 1 |
| Trifunovic, A | 1 |
| Barbosa-Gouveia, S | 1 |
| González-Vioque, E | 1 |
| Hermida, Á | 1 |
| Suarez, MU | 1 |
| Martínez-González, MJ | 1 |
| Borges, F | 1 |
| Wintjes, L | 1 |
| Kappen, A | 1 |
| Rodenburg, R | 1 |
| Couce, ML | 1 |
| Sawada, D | 1 |
| Naito, S | 1 |
| Aoyama, H | 1 |
| Shiohama, T | 1 |
| Ichikawa, T | 1 |
| Imagawa, E | 1 |
| Miyake, N | 2 |
| Matsumoto, N | 2 |
| Fujii, K | 1 |
| Werner, R | 1 |
| Daum, E | 1 |
| Felber, S | 1 |
| Wöhrle, JC | 1 |
| Toldo, I | 1 |
| Nosadini, M | 1 |
| Boscardin, C | 1 |
| Talenti, G | 1 |
| Manara, R | 1 |
| Lamantea, E | 1 |
| Legati, A | 1 |
| Ghezzi, D | 2 |
| Perilongo, G | 1 |
| Sartori, S | 1 |
| Finsterer, J | 1 |
| Zarrouk-Mahjoub, S | 1 |
| Çavuşoğlu, D | 1 |
| Olgaç-Dündar, N | 1 |
| Öztekin, Ö | 1 |
| Özdemir, TR | 1 |
| Arıcan, P | 1 |
| Gençpınar, P | 1 |
| Yelam, A | 1 |
| Nagarajan, E | 1 |
| Chuquilin, M | 1 |
| Govindarajan, R | 1 |
| Brown, AM | 2 |
| Evans, RD | 2 |
| Smith, PA | 1 |
| Rich, LR | 1 |
| Ransom, BR | 2 |
| Schicks, J | 1 |
| Schöls, L | 1 |
| van der Knaap, MS | 10 |
| Synofzik, M | 1 |
| Martikainen, MH | 1 |
| Ellfolk, U | 1 |
| Majamaa, K | 1 |
| Szafirska, M | 1 |
| Urbanik, A | 1 |
| Róg, T | 1 |
| Alibas, H | 1 |
| Koytak, PK | 1 |
| Ekinci, G | 1 |
| Uluc, K | 1 |
| Yang, X | 1 |
| Hamner, MA | 1 |
| Ye, ZC | 1 |
| Chen, S | 1 |
| Lodygensky, GA | 1 |
| Kunz, N | 1 |
| Perroud, E | 1 |
| Somm, E | 1 |
| Mlynarik, V | 1 |
| Hüppi, PS | 1 |
| Gruetter, R | 1 |
| Sizonenko, SV | 1 |
| Tylki-Szymanska, A | 1 |
| Jurkiewicz, E | 2 |
| Zakharova, EY | 1 |
| Bobek-Billewicz, B | 1 |
| Wolf, NI | 2 |
| Toro, C | 1 |
| Kister, I | 1 |
| Latif, KA | 1 |
| Leventer, R | 1 |
| Pizzino, A | 1 |
| Simons, C | 1 |
| Abbink, TE | 2 |
| Taft, RJ | 1 |
| Vanderver, A | 2 |
| Kevelam, SH | 1 |
| Klouwer, FC | 1 |
| Fock, JM | 1 |
| Salomons, GS | 1 |
| Bugiani, M | 1 |
| Güngör, O | 1 |
| Özkaya, AK | 1 |
| Şahin, Y | 1 |
| Güngör, G | 1 |
| Dilber, C | 1 |
| Aydın, K | 1 |
| Şahin, S | 1 |
| Cansu, A | 1 |
| Kalay, E | 1 |
| Dinçer, T | 1 |
| Kul, S | 1 |
| Çakır, İM | 1 |
| Kamaşak, T | 1 |
| Budak, GY | 1 |
| Sellars, EA | 1 |
| Balmakund, T | 1 |
| Bosanko, K | 1 |
| Nichols, BL | 1 |
| Kahler, SG | 1 |
| Zarate, YA | 1 |
| Mikhaĭlova, SV | 1 |
| Zakharova, EIu | 1 |
| Banin, AV | 1 |
| Demushkina, AA | 1 |
| Petrukhin, AS | 1 |
| Lin, J | 1 |
| Chiconelli Faria, E | 1 |
| Da Rocha, AJ | 1 |
| Rodrigues Masruha, M | 1 |
| Pereira Vilanova, LC | 1 |
| Scheper, GC | 4 |
| Mierzewska, H | 1 |
| Bekiesinska-Figatowska, M | 1 |
| Szczepanik, E | 1 |
| Skolarus, LE | 1 |
| Gemmete, JJ | 1 |
| Braley, T | 1 |
| Morgenstern, LB | 1 |
| Pandey, A | 1 |
| Sharma, S | 1 |
| Sankhyan, N | 1 |
| Kumar, A | 1 |
| Gulati, S | 1 |
| Steenweg, ME | 3 |
| Pouwels, PJ | 2 |
| van Wieringen, WN | 1 |
| Barkhof, F | 2 |
| van Berge, L | 1 |
| Dooves, S | 1 |
| van Berkel, CG | 2 |
| Polder, E | 1 |
| Ceulemans, B | 1 |
| Prabhakar, P | 1 |
| Régal, L | 1 |
| Fattal-Valevski, A | 1 |
| Richer, L | 1 |
| Simonetti, BG | 1 |
| Rodenburg, RJ | 1 |
| Huang, QH | 1 |
| Xiao, JX | 1 |
| Wang, JM | 1 |
| Jiang, YW | 1 |
| Wu, Y | 1 |
| Haack, T | 1 |
| Martinelli, D | 1 |
| Bley, A | 1 |
| Diogo, L | 1 |
| Grillo, E | 1 |
| Te Water Naudé, J | 1 |
| Strom, TM | 1 |
| Bertini, E | 1 |
| Prokisch, H | 1 |
| Zeviani, M | 1 |
| Yamashita, S | 1 |
| Osaka, H | 1 |
| Iai, M | 1 |
| Aida, N | 1 |
| Tanaka, Y | 1 |
| Talim, B | 1 |
| Pyle, A | 1 |
| Griffin, H | 1 |
| Topaloglu, H | 1 |
| Tokatli, A | 1 |
| Keogh, MJ | 1 |
| Santibanez-Koref, M | 1 |
| Chinnery, PF | 1 |
| Horvath, R | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Development and Validation of a Myopathy Rating Scale in Mitochondrial Disease[NCT05250375] | 20 participants (Anticipated) | Observational [Patient Registry] | 2017-03-24 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
2 reviews available for lactic acid and CACH Syndrome
| Article | Year |
|---|---|
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
Topics: Brain; Female; Humans; Infant; Iron-Sulfur Proteins; Lactic Acid; Leukoencephalopathies; Mitochondri | 2018 |
[Clinical and molecular genetic diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation in children].
Topics: Brain Stem; Child; Diagnosis, Differential; DNA Mutational Analysis; Humans; Lactic Acid; Leukoencep | 2009 |
34 other studies available for lactic acid and CACH Syndrome
| Article | Year |
|---|---|
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Topics: Adolescent; Adult; Aspartate-tRNA Ligase; Ataxia; Brain Stem; Disease Progression; Humans; Lactic Ac | 2022 |
An induced pluripotent stem cell line (FHUSTCi002-A) derived from a patient with leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Topics: Aspartate-tRNA Ligase; Brain Stem; Female; Humans; Induced Pluripotent Stem Cells; Lactic Acid; Leuk | 2022 |
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Topics: Cell Line; Corpus Callosum; Diseases in Twins; Electron Transport Complex I; Exome Sequencing; Exter | 2020 |
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
Topics: Animals; Aspartate-tRNA Ligase; Brain Stem; Cell Survival; Cerebellar Ataxia; Cerebellum; Humans; La | 2020 |
Identification of a Novel Variant in
Topics: Adult; Amino Acyl-tRNA Synthetases; Brain Stem; Cells, Cultured; Female; Fibroblasts; Genetic Variat | 2020 |
Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate.
Topics: Adolescent; Age Factors; Brain Stem; Disease Progression; Glutamate-tRNA Ligase; Humans; Lactic Acid | 2021 |
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and not Always Lactate Elevation.
Topics: Brain Stem; Humans; Lactic Acid; Leukoencephalopathies; Magnetic Resonance Imaging; Spinal Cord | 2018 |
ISCA2 mutations manifest differentially from DARS2 mutations.
Topics: Aspartate-tRNA Ligase; Brain; Humans; Lactic Acid; Leukoencephalopathies; Mutation; Phenotype | 2018 |
The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey.
Topics: Aspartate-tRNA Ligase; Brain Stem; Cerebellum; Child; Humans; Lactic Acid; Leukoencephalopathies; Ma | 2018 |
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene.
Topics: Aftercare; Aspartate-tRNA Ligase; Brain Stem; Conservative Treatment; Humans; Lactic Acid; Leukoence | 2019 |
Hypothermic neuroprotection during reperfusion following exposure to aglycemia in central white matter is mediated by acidification.
Topics: Animals; Axons; Disease Models, Animal; Evoked Potentials; Glucose; Hydrogen-Ion Concentration; Hypo | 2019 |
Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL).
Topics: Adult; Aspartate-tRNA Ligase; Brain Stem; Female; Frameshift Mutation; Gait Disorders, Neurologic; H | 2013 |
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
Topics: Adolescent; Age of Onset; Aspartate-tRNA Ligase; Brain Stem; Child; Cognition; Disease Progression; | 2013 |
[The metabolic abnormalities in plaques of multiple sclerosis patients - the assessment in proton MR spectroscopy (1HMRS)].
Topics: Adult; Aspartic Acid; Axons; Brain; Choline; Creatine; Female; Humans; Lactic Acid; Leukoencephalopa | 2013 |
A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings.
Topics: Adult; Brain Stem; Diagnosis, Differential; Humans; Lactic Acid; Leukoencephalopathies; Magnetic Res | 2014 |
Novel hypoglycemic injury mechanism: N-methyl-D-aspartate receptor-mediated white matter damage.
Topics: alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid; Animals; Aspartic Acid; Brain; Calcium; Di | 2014 |
Definition and quantification of acute inflammatory white matter injury in the immature brain by MRI/MRS at high magnetic field.
Topics: Animals; Biomarkers; Diffusion Tensor Imaging; Encephalitis; Humans; Immunohistochemistry; Infant, P | 2014 |
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings.
Topics: Adult; Brain; Diffusion Magnetic Resonance Imaging; Humans; Lactic Acid; Leukoencephalopathies; Magn | 2014 |
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
Topics: Age of Onset; Aspartate-tRNA Ligase; Cerebral Cortex; Databases, Factual; Encephalitis; Female; Huma | 2015 |
Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.
Topics: Adolescent; Brain Stem; Glutamate-tRNA Ligase; Humans; Lactic Acid; Leukoencephalopathies; Magnetic | 2016 |
A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).
Topics: Brain Stem; Child, Preschool; DNA Mutational Analysis; Female; Follow-Up Studies; Glutamate-tRNA Lig | 2016 |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Topics: Biomarkers; Brain Stem; Child; Glutamate-tRNA Ligase; Humans; Infant; Lactic Acid; Leukoencephalopat | 2016 |
Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Topics: Acidosis; Brain Stem; Diagnosis, Differential; Glutamate-tRNA Ligase; Humans; Infant; Lactic Acid; L | 2017 |
Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.
Topics: Adolescent; Aspartate-tRNA Ligase; Brain Stem; Humans; Lactic Acid; Leukoencephalopathies; Magnetic | 2010 |
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
Topics: Aspartate-tRNA Ligase; Brain; Brain Stem; DNA Mutational Analysis; Humans; Lactic Acid; Leukoencepha | 2011 |
Abnormal white matter changes after cerebral aneurysm treatment with polyglycolic-polylactic acid coils.
Topics: Embolization, Therapeutic; Encephalitis; Female; Humans; Intracranial Aneurysm; Lactic Acid; Leukoen | 2010 |
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate.
Topics: Adolescent; Aspartate-tRNA Ligase; Brain Stem; Humans; Lactic Acid; Leukoencephalopathies; Magnetic | 2011 |
Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging.
Topics: Adolescent; Adult; Anisotropy; Brain; Brain Stem; Female; Humans; Lactic Acid; Leukoencephalopathies | 2011 |
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
Topics: Alternative Splicing; Aspartate-tRNA Ligase; Brain Stem; Cells, Cultured; HEK293 Cells; HeLa Cells; | 2012 |
Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.
Topics: Age of Onset; Aspartic Acid; Brain; Child; Child, Preschool; Choline; Female; Humans; Lactic Acid; L | 2012 |
[Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation].
Topics: Adolescent; Asian People; Aspartate-tRNA Ligase; Brain Stem; DNA Mutational Analysis; Exons; Humans; | 2012 |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Topics: Brain Stem; Cells, Cultured; Child; DNA Mutational Analysis; Electron Transport Chain Complex Protei | 2012 |
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.
Topics: Aspartate-tRNA Ligase; Brain Stem; Cerebellum; Child; Consanguinity; Female; Humans; Lactic Acid; Le | 2013 |
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
Topics: Brain Stem; Female; Glutamate-tRNA Ligase; Humans; Lactic Acid; Leukoencephalopathies; Male; Mutatio | 2013 |