Page last updated: 2024-10-18

glutaric acid and Menkes Kinky Hair Syndrome

glutaric acid has been researched along with Menkes Kinky Hair Syndrome in 1 studies

glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.

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)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Menkes, JH1

Other Studies

1 other study available for glutaric acid and Menkes Kinky Hair Syndrome

ArticleYear
Subdural haematoma, non-accidental head injury or ...?
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2001, Volume: 5, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Battered Child Syndrome; Diagnosis, Differential; Glutarates;

2001