Page last updated: 2024-11-06

hydroxyproline and Menkes Kinky Hair Syndrome

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

Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ASCORBIC ACID can result in impaired hydroxyproline formation.
hydroxyproline : A proline derivative that is proline substituted by at least one 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 (3)

TimeframeStudies, this research(%)All Research%
pre-19902 (66.67)18.7374
1990's1 (33.33)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Gacheru, S1
McGee, C1
Uriu-Hare, JY1
Kosonen, T1
Packman, S1
Tinker, D1
Krawetz, SA1
Reiser, K1
Keen, CL1
Rucker, RB1
Prockop, DJ1
Kivirikko, KI1
Tuderman, L1
Guzman, NA1
Uitto, J1

Reviews

1 review available for hydroxyproline and Menkes Kinky Hair Syndrome

ArticleYear
Biochemistry of the elastic fibers in normal connective tissues and its alterations in diseases.
    The Journal of investigative dermatology, 1979, Volume: 72, Issue:1

    Topics: Amino Acids; Arteriosclerosis; Chemical Phenomena; Chemistry; Collagen Diseases; Connective Tissue;

1979

Other Studies

2 other studies available for hydroxyproline and Menkes Kinky Hair Syndrome

ArticleYear
Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts.
    Archives of biochemistry and biophysics, 1993, Volume: 301, Issue:2

    Topics: Animals; Base Sequence; Copper; Fibroblasts; Humans; Hydroxyproline; Menkes Kinky Hair Syndrome; Mic

1993
The biosynthesis of collagen and its disorders (second of two parts).
    The New England journal of medicine, 1979, Jul-12, Volume: 301, Issue:2

    Topics: Aging; Animals; Colchicine; Collagen; Collagen Diseases; Ehlers-Danlos Syndrome; Glucosyltransferase

1979