methylmalonic acid has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 9 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.
Ornithine Carbamoyltransferase Deficiency Disease: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases)." | 1.33 | Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. ( Hasegawa, Y; Hori, D; Kimura, M; Verma, IC; Yamaguchi, S; Yang, Y, 2005) |
| " In addition a dose-response effect of alanine was observed." | 1.27 | Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism. ( Algert, S; Kelts, DG; Nyhan, WL; Prodanos, C; Wolff, JA, 1985) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (33.33) | 18.7374 |
| 1990's | 3 (33.33) | 18.2507 |
| 2000's | 3 (33.33) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Hori, D | 1 |
| Hasegawa, Y | 1 |
| Kimura, M | 1 |
| Yang, Y | 1 |
| Verma, IC | 1 |
| Yamaguchi, S | 1 |
| Huang, HP | 2 |
| Chien, YH | 1 |
| Huang, LM | 1 |
| Ni, YH | 1 |
| Chang, MH | 1 |
| Ho, MC | 1 |
| Lee, PH | 1 |
| Hwu, WL | 1 |
| Lai, YC | 1 |
| Tsai, IJ | 1 |
| Tsau, YK | 1 |
| Kajita, M | 1 |
| Niwa, T | 1 |
| Watanabe, K | 1 |
| Sanjurjo, P | 1 |
| Ruiz, JI | 1 |
| Montejo, M | 1 |
| Haan, EA | 1 |
| Danks, DM | 1 |
| Hoogenraad, NJ | 1 |
| Rogers, JG | 1 |
| Rosenberg, LE | 1 |
| Hyman, SL | 1 |
| Porter, CA | 1 |
| Page, TJ | 1 |
| Iwata, BA | 1 |
| Kissel, R | 1 |
| Batshaw, ML | 1 |
| Wolff, JA | 1 |
| Kelts, DG | 1 |
| Algert, S | 1 |
| Prodanos, C | 1 |
| Nyhan, WL | 1 |
1 review available for methylmalonic acid and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Treating genetic diseases: lessons from three children.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Genetic Diseases, Inborn; Genetic Therapy; Hum | 1990 |
8 other studies available for methylmalonic acid and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Topics: Adolescent; Age of Onset; Asia; Carboxylic Acids; Child; Child, Preschool; Disease Progression; Drug | 2005 |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
Topics: Carbamoyl-Phosphate Synthase I Deficiency Disease; Child, Preschool; Cytomegalovirus Infections; Eps | 2005 |
High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children.
Topics: Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Child, Preschool; Female; Hemofiltration; | 2007 |
Analysis of urinary organic acids by liquid chromatography-atmospheric pressure chemical ionization mass spectrometry.
Topics: Acids; Adolescent; Adult; Atmospheric Pressure; Benzoates; Child; Chromatography, Liquid; Female; Hu | 1993 |
Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids.
Topics: alpha-Linolenic Acid; Amino Acid Metabolism, Inborn Errors; Arachidonic Acid; Child; Child, Preschoo | 1997 |
Hereditary hyperammonaemic syndromes--a six year experience.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Humans; Infan | 1979 |
Behavior management of feeding disturbances in urea cycle and organic acid disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anorexia; Argininosuccinic Acid; Behavior Therapy; Chil | 1987 |
Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Dietary Proteins; Female; H | 1985 |