Page last updated: 2024-10-21

homovanillic acid and Menkes Kinky Hair Syndrome

homovanillic acid has been researched along with Menkes Kinky Hair Syndrome in 5 studies

Homovanillic Acid: A 3-O-methyl ETHER of (3,4-dihydroxyphenyl)acetic acid.
homovanillate : A hydroxy monocarboxylic acid anion which is obtained by deprotonation of the carboxy group of homovanillic acid.
homovanillic acid : A monocarboxylic acid that is the 3-O-methyl ether of (3,4-dihydroxyphenyl)acetic acid. It is a catecholamine metabolite.

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
"Menkes disease is a lethal disorder associated with copper metabolism."1.42Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease. ( Iijima, K; Koda, T; Kodama, H; Kusunoki, N; Lee, T; Matsuo, K; Miwa, A; Morioka, I; Nagasaka, M; Shibata, A; Takeshima, Y; Yagi, M; Yokota, T, 2015)
"Menkes disease is a disorder of copper transport that results in early death."1.33Screening for Menkes disease using the urine HVA/VMA ratio. ( Hamasaki, Y; Kodama, H; Matsuo, M; Tasaki, R, 2005)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (20.00)29.6817
2010's4 (80.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Lee, T3
Yagi, M3
Kusunoki, N3
Nagasaka, M2
Koda, T2
Matsuo, K2
Yokota, T2
Miwa, A2
Shibata, A2
Morioka, I3
Kodama, H4
Takeshima, Y3
Iijima, K3
Awano, H1
Matsuo, M2
Tasaki, R2
Iwanaga, M1
Takayanagi, T1
Hamasaki, Y1

Other Studies

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

ArticleYear
Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease.
    Brain & development, 2015, Volume: 37, Issue:1

    Topics: Chromatography, High Pressure Liquid; Early Diagnosis; Female; Homovanillic Acid; Humans; Infant, Ne

2015
[Clinical manifestations of three neonates with family histories of Menkes disease].
    No to hattatsu = Brain and development, 2014, Volume: 46, Issue:1

    Topics: Child, Preschool; Early Diagnosis; Genetic Predisposition to Disease; Genetic Testing; Homovanillic

2014
Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio".
    Brain & development, 2016, Volume: 38, Issue:8

    Topics: Homovanillic Acid; Humans; Infant; Infant, Newborn; Menkes Kinky Hair Syndrome; Neonatal Screening;

2016
Neonatal screening for Menkes disease using urine HVA/VMA ratio.
    Brain & development, 2016, Volume: 38, Issue:8

    Topics: Homovanillic Acid; Humans; Infant; Infant, Newborn; Menkes Kinky Hair Syndrome; Neonatal Screening;

2016
Screening for Menkes disease using the urine HVA/VMA ratio.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:1

    Topics: Alleles; Chromatography, High Pressure Liquid; Copper; Dopamine beta-Hydroxylase; Dose-Response Rela

2005