Page last updated: 2024-10-17

methylmalonic acid and Macular Degeneration

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.

Research Excerpts

ExcerptRelevanceReference
"Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities."7.74Retinal 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)."5.22Ocular 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."3.74Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. ( Borruat, FX; Gaillard, MC; Matthieu, JM, 2008)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's1 (50.00)2.80

Authors

AuthorsStudies
Matmat, K1
Guéant-Rodriguez, RM1
Oussalah, A1
Wiedemann-Fodé, A1
Dionisi-Vici, C1
Coelho, D1
Guéant, JL1
Conart, JB1
Gaillard, MC1
Matthieu, JM1
Borruat, FX1

Reviews

1 review available for methylmalonic acid and Macular Degeneration

ArticleYear
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
    Human genetics, 2022, Volume: 141, Issue:7

    Topics: Amino Acid Metabolism, Inborn Errors; Homocystinuria; Humans; Macular Degeneration; Methylmalonic Ac

2022

Other Studies

1 other study available for methylmalonic acid and Macular Degeneration

ArticleYear
Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
    Klinische Monatsblatter fur Augenheilkunde, 2008, Volume: 225, Issue:5

    Topics: Adolescent; Child, Preschool; Female; Homocystinuria; Humans; Infant; Macular Degeneration; Male; Me

2008