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)
| Excerpt | Relevance | Reference |
|---|---|---|
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (33.33) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 1 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Zhang, J | 1 |
| Gan, J | 1 |
| Yang, Z | 1 |
| Wang, J | 1 |
| Gu, YH | 2 |
| Kodama, H | 2 |
| Ogawa, E | 1 |
| Izumi, Y | 1 |
| Ito, H | 1 |
| Mori, K | 1 |
| Sakata, M | 1 |
| Naito, E | 1 |
| Harada, M | 1 |
| Minato, M | 1 |
| Kuroda, Y | 1 |
| Kagami, S | 1 |
3 other studies available for pyruvic acid and Menkes Kinky Hair Syndrome
| Article | Year |
|---|---|
[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].
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.
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.
Topics: Biomarkers; Ceruloplasmin; Copper; Diffusion Magnetic Resonance Imaging; Electroencephalography; Ele | 2008 |