methylmalonic acid has been researched along with Galactosemias in 5 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.
Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (100.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Snyderman, SE | 1 |
| Woolf, LI | 1 |
| Rozen, R | 1 |
| Buhl, S | 1 |
| Mohyuddin, F | 1 |
| Caillibot, V | 1 |
| Scriver, CR | 1 |
| Evans, MI | 1 |
| Schulman, JD | 2 |
2 reviews available for methylmalonic acid and Galactosemias
| Article | Year |
|---|---|
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
The dietary treatment of inborn errors of metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; | 1976 |
3 other studies available for methylmalonic acid and Galactosemias
| Article | Year |
|---|---|
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes.
Topics: Acidosis; Adult; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Galactose; Galactose | 1977 |
Biochemical fetal therapy.
Topics: Adrenal Hyperplasia, Congenital; Adult; Arrhythmias, Cardiac; Copper; Female; Fetal Diseases; Galact | 1986 |
Prenatal treatment of biochemical disorders.
Topics: Adrenal Hyperplasia, Congenital; Female; Fetal Diseases; Galactosemias; Humans; Metabolism, Inborn E | 1985 |