methylmalonic acid has been researched along with Klinefelter Syndrome in 1 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
Klinefelter Syndrome: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
| Excerpt | Relevance | Reference |
|---|---|---|
| "The occurrence of non-mosaic double trisomy is exceptional in newborns." | 1.35 | Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism. ( Alves da Silva, AF; Biselli, JM; Carvalho, VM; Eberlin, MN; Goloni-Bertollo, EM; Haddad, R; Machado, FB; Medina-Acosta, E; Pavarino-Bertelli, EC; Vannucchi, H; Zampieri, BL, 2009) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Biselli, JM | 1 |
| Machado, FB | 1 |
| Zampieri, BL | 1 |
| Alves da Silva, AF | 1 |
| Goloni-Bertollo, EM | 1 |
| Haddad, R | 1 |
| Eberlin, MN | 1 |
| Vannucchi, H | 1 |
| Carvalho, VM | 1 |
| Medina-Acosta, E | 1 |
| Pavarino-Bertelli, EC | 1 |
1 other study available for methylmalonic acid and Klinefelter Syndrome
| Article | Year |
|---|---|
Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism.
Topics: Adolescent; Alleles; Aneuploidy; Brazil; Chromosomes, Human, X; Chromosomes, Human, Y; DNA Mutationa | 2009 |