urea and Menkes Kinky Hair Syndrome
urea has been researched along with Menkes Kinky Hair Syndrome in 1 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
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 (1)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (100.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors
Authors | Studies |
---|---|
Irons, M | 1 |
Levy, HL | 1 |
Reviews
1 review available for urea and Menkes Kinky Hair Syndrome
Article | Year |
---|---|
Metabolic syndromes with dermatologic manifestations.
Topics: Albinism; Alkaptonuria; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biotinid | 1986 |