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lactic acid and Menkes Kinky Hair Syndrome

lactic acid has been researched along with Menkes Kinky Hair Syndrome in 5 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.

Menkes Kinky Hair Syndrome: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (20.00)18.2507
2000's3 (60.00)29.6817
2010's1 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Gu, YH2
Kodama, H2
Ogawa, E1
Izumi, Y1
Ito, H1
Mori, K1
Sakata, M1
Naito, E1
Harada, M1
Minato, M1
Kuroda, Y1
Kagami, S1
Rizzo, C1
Bertini, E1
Piemonte, F1
Leuzzi, V1
Sabetta, G1
Federici, G1
Luchetti, A1
Dionisi-Vici, C1
Sfaello, I1
Castelnau, P1
Blanc, N1
Ogier, H1
Evrard, P1
Arzimanoglou, A1
Tsurui, S1
Sugie, H1

Other Studies

5 other studies available for lactic acid and Menkes Kinky Hair Syndrome

ArticleYear
Lactate and pyruvate levels in blood and cerebrospinal fluid in patients with Menkes disease.
    The Journal of pediatrics, 2014, Volume: 164, Issue:4

    Topics: Child; Child, Preschool; Humans; Infant; Lactic Acid; Male; Menkes Kinky Hair Syndrome; Pyruvic Acid

2014
Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease.
    Pediatrics international : official journal of the Japan Pediatric Society, 2008, Volume: 50, Issue:6

    Topics: Biomarkers; Ceruloplasmin; Copper; Diffusion Magnetic Resonance Imaging; Electroencephalography; Ele

2008
Oxidative abnormalities in Menkes disease.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: Cells, Cultured; Ceruloplasmin; Copper; Cytochrome-c Oxidase Deficiency; Fibroblasts; Histidine; Hum

2000
Infantile spasms and Menkes disease.
    Epileptic disorders : international epilepsy journal with videotape, 2000, Volume: 2, Issue:4

    Topics: Brain; Ceruloplasmin; Copper; Electroencephalography; Histidine; Humans; Infant; Infant, Newborn; La

2000
[A pathophysiological study of macular mutant mouse as a model of human Menkes kinky hair disease. II. Analysis of brain metabolism using 31P- and 1H-nuclear magnetic resonance spectroscopy].
    No to hattatsu = Brain and development, 1990, Volume: 22, Issue:6

    Topics: Amino Acids; Animals; Brain; Disease Models, Animal; Energy Metabolism; Lactates; Lactic Acid; Magne

1990