Page last updated: 2024-10-16

choline and Leigh Disease

choline has been researched along with Leigh Disease in 2 studies

Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Miscevic, F1
Foong, J1
Schmitt, B1
Blaser, S1
Brudno, M1
Schulze, A1
Sijens, PE1
Smit, GP1
Rödiger, LA1
van Spronsen, FJ1
Oudkerk, M1
Rodenburg, RJ1
Lunsing, RJ1

Other Studies

2 other studies available for choline and Leigh Disease

ArticleYear
An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.
    Molecular genetics and metabolism, 2016, Volume: 119, Issue:4

    Topics: Aspartic Acid; Basal Ganglia; Child; Child, Preschool; Choline; Creatine; Female; gamma-Aminobutyric

2016
MR spectroscopy of the brain in Leigh syndrome.
    Brain & development, 2008, Volume: 30, Issue:9

    Topics: Brain; Choline; Diagnosis, Differential; Female; Humans; Infant; Kearns-Sayre Syndrome; Lactates; Le

2008