methylmalonic acid has been researched along with Macular Degeneration in 2 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.
Macular Degeneration: Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
Excerpt | Relevance | Reference |
---|---|---|
"Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities." | 7.74 | Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. ( Borruat, FX; Gaillard, MC; Matthieu, JM, 2008) |
"Inherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU)." | 5.22 | Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review. ( Coelho, D; Conart, JB; Dionisi-Vici, C; Guéant, JL; Guéant-Rodriguez, RM; Matmat, K; Oussalah, A; Wiedemann-Fodé, A, 2022) |
"Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities." | 3.74 | Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. ( Borruat, FX; Gaillard, MC; Matthieu, JM, 2008) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 1 (50.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 1 (50.00) | 2.80 |
Authors | Studies |
---|---|
Matmat, K | 1 |
Guéant-Rodriguez, RM | 1 |
Oussalah, A | 1 |
Wiedemann-Fodé, A | 1 |
Dionisi-Vici, C | 1 |
Coelho, D | 1 |
Guéant, JL | 1 |
Conart, JB | 1 |
Gaillard, MC | 1 |
Matthieu, JM | 1 |
Borruat, FX | 1 |
1 review available for methylmalonic acid and Macular Degeneration
Article | Year |
---|---|
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Topics: Amino Acid Metabolism, Inborn Errors; Homocystinuria; Humans; Macular Degeneration; Methylmalonic Ac | 2022 |
1 other study available for methylmalonic acid and Macular Degeneration
Article | Year |
---|---|
Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
Topics: Adolescent; Child, Preschool; Female; Homocystinuria; Humans; Infant; Macular Degeneration; Male; Me | 2008 |