Page last updated: 2024-10-16

adenine and Leigh Disease

adenine 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 Excerpts

ExcerptRelevanceReference
"We report a pedigree of adult-onset Leigh syndrome (LS) with mitochondrial mutation 8344 A>G."1.40Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation. ( Han, JY; Lee, KW; Park, HK; Sung, JJ; Yoon, BN, 2014)
"The patients with MELAS had lower mutation levels as well as a lower proportion of RRF, and these two parameters were even lower in the PEO and MDM patients."1.31Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes. ( Akita, Y; Iwanaga, R; Kato, H; Koga, A; Koga, Y; Matsuishi, T; Sato, Y; Takane, N; Tubone, J, 2000)

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
Han, JY1
Sung, JJ1
Park, HK1
Yoon, BN1
Lee, KW1
Koga, Y1
Koga, A1
Iwanaga, R1
Akita, Y1
Tubone, J1
Matsuishi, T1
Takane, N1
Sato, Y1
Kato, H1

Other Studies

2 other studies available for adenine and Leigh Disease

ArticleYear
Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation.
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2014, Volume: 21, Issue:11

    Topics: Adenine; Adult; Age of Onset; Brain; Cognitive Dysfunction; Diffusion Magnetic Resonance Imaging; DN

2014
Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes.
    Acta neuropathologica, 2000, Volume: 99, Issue:2

    Topics: Adenine; Adult; Child; Diabetes Mellitus; DNA, Mitochondrial; Guanine; Humans; Leigh Disease; MELAS

2000