methylmalonic acid has been researched along with Retinal Degeneration in 8 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.
Retinal Degeneration: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
| Excerpt | Relevance | Reference |
|---|---|---|
| "The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy." | 7.68 | Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. ( Geraghty, MT; Green, WR; Maumenee, IH; Silva, JC; Traboulsi, EI; Valle, D, 1992) |
| "We present the case of a patient with congenital methylmalonic aciduria with homocystinuria and a nondetectable electroretinogram." | 7.68 | Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria. ( Feist, RM; Fishman, GA; Ticho, BH, 1992) |
| "A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria , and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration." | 7.67 | Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. ( Dowton, SB; Fulton, AB; Levy, HL; Robb, RM, 1984) |
| "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) |
| "Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene." | 4.02 | Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. ( Baumgartner, MR; Forny, M; Froese, DS; Grimm, C; Kiessling, E; Kožich, V; Krijt, J; Nötzli, S; Samardzija, M; Todorova, V, 2021) |
| "The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy." | 3.68 | Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. ( Geraghty, MT; Green, WR; Maumenee, IH; Silva, JC; Traboulsi, EI; Valle, D, 1992) |
| "We present the case of a patient with congenital methylmalonic aciduria with homocystinuria and a nondetectable electroretinogram." | 3.68 | Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria. ( Feist, RM; Fishman, GA; Ticho, BH, 1992) |
| "A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria , and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration." | 3.67 | Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. ( Dowton, SB; Fulton, AB; Levy, HL; Robb, RM, 1984) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (25.00) | 18.7374 |
| 1990's | 2 (25.00) | 18.2507 |
| 2000's | 1 (12.50) | 29.6817 |
| 2010's | 1 (12.50) | 24.3611 |
| 2020's | 2 (25.00) | 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 |
| Kiessling, E | 1 |
| Nötzli, S | 1 |
| Todorova, V | 1 |
| Forny, M | 1 |
| Baumgartner, MR | 1 |
| Samardzija, M | 1 |
| Krijt, J | 1 |
| Kožich, V | 1 |
| Grimm, C | 1 |
| Froese, DS | 1 |
| Francis, JH | 1 |
| Rao, L | 1 |
| Rosen, RB | 1 |
| Tsina, EK | 1 |
| Marsden, DL | 1 |
| Hansen, RM | 1 |
| Fulton, AB | 2 |
| Robb, RM | 1 |
| Dowton, SB | 1 |
| Levy, HL | 1 |
| Traboulsi, EI | 1 |
| Silva, JC | 1 |
| Geraghty, MT | 1 |
| Maumenee, IH | 1 |
| Valle, D | 1 |
| Green, WR | 1 |
| Ticho, BH | 1 |
| Feist, RM | 1 |
| Fishman, GA | 1 |
| Rych, K | 1 |
1 review available for methylmalonic acid and Retinal 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 |
7 other studies available for methylmalonic acid and Retinal Degeneration
| Article | Year |
|---|---|
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Animals; Female; H | 2021 |
Methylmalonic aciduria and homocystinuria-associated maculopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Homocysteine; Homocystinuria; Humans; Macula | 2010 |
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Cobamides; Female; Homocysteine; Homocystinuria; Huma | 2005 |
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Child, Preschool; Cystathionine; Growth D | 1984 |
Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria.
Topics: Eye; Eye Diseases; Female; Homocystinuria; Humans; Infant; Iris Diseases; Methylmalonic Acid; Pigmen | 1992 |
Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria.
Topics: Child, Preschool; Diagnosis, Differential; Electroretinography; Female; Homocystinuria; Humans; Meth | 1992 |
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
Topics: Amino Acids, Sulfur; Cystathionine; Humans; Malonates; Methylmalonic Acid; Retinal Degeneration; Vit | 1985 |