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methylmalonic acid and Hypophosphatemia, Familial

methylmalonic acid has been researched along with Hypophosphatemia, Familial 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.

Hypophosphatemia, Familial: An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19901 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Snyderman, SE1

Reviews

1 review available for methylmalonic acid and Hypophosphatemia, Familial

ArticleYear
The dietary therapy of inherited metabolic disease.
    Progress in food & nutrition science, 1975, Volume: 1, Issue:7-8

    Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C

1975