catechol has been researched along with Menkes Kinky Hair Syndrome in 3 studies
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 |
|---|---|---|
| "Menkes disease is a lethal X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, a copper-transporting ATPase with diverse and important biological functions." | 2.49 | Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy. ( Holmes, CS; Kaler, SG, 2013) |
| "While Menkes disease newborns appear normal neurologically, analyses of fetal tissues including placenta indicate abnormal copper distribution and suggest a prenatal onset of the metal transport defect." | 1.38 | In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. ( Centeno, JA; Gahl, WA; Goldstein, DS; Haddad, MR; Holmes, CS; Jacobson, BE; Kaler, SG; Macri, CJ; Popek, EJ, 2012) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 3 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kaler, SG | 3 |
| Holmes, CS | 3 |
| Møller, LB | 1 |
| Hicks, JD | 1 |
| Goldstein, DS | 2 |
| Brendl, C | 1 |
| Huppke, P | 1 |
| Haddad, MR | 1 |
| Macri, CJ | 1 |
| Jacobson, BE | 1 |
| Centeno, JA | 1 |
| Popek, EJ | 1 |
| Gahl, WA | 1 |
1 review available for catechol and Menkes Kinky Hair Syndrome
| Article | Year |
|---|---|
Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.
Topics: Adenosine Triphosphatases; Animals; Biomarkers; Catecholamines; Catechols; Cation Transport Proteins | 2013 |
2 other studies available for catechol and Menkes Kinky Hair Syndrome
| Article | Year |
|---|---|
Diagnosis of copper transport disorders.
Topics: Adenosine Triphosphatases; Catechols; Cation Transport Proteins; Ceruloplasmin; Chorionic Villi Samp | 2011 |
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
Topics: Adenosine Triphosphatases; Catechols; Cation Transport Proteins; Ceruloplasmin; Copper; Copper-Trans | 2012 |