Page last updated: 2024-10-20

pyruvic acid and Menkes Kinky Hair Syndrome

pyruvic acid has been researched along with Menkes Kinky Hair Syndrome in 3 studies

Pyruvic Acid: An intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)
pyruvic acid : A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis.

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 Excerpts

ExcerptRelevanceReference
"A child with Menkes disease diagnosed at the West China Second Hospital of Sichuan University and its family members in March 2022 was selected as the study subjects."1.91[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease]. ( Gan, J; Wang, J; Yang, Z; Zhang, J, 2023)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's1 (33.33)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Zhang, J1
Gan, J1
Yang, Z1
Wang, J1
Gu, YH2
Kodama, H2
Ogawa, E1
Izumi, Y1
Ito, H1
Mori, K1
Sakata, M1
Naito, E1
Harada, M1
Minato, M1
Kuroda, Y1
Kagami, S1

Other Studies

3 other studies available for pyruvic acid and Menkes Kinky Hair Syndrome

ArticleYear
[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023, Dec-10, Volume: 40, Issue:12

    Topics: Child; Copper-Transporting ATPases; East Asian People; Humans; Menkes Kinky Hair Syndrome; Mutation;

2023
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