methylmalonic acid has been researched along with BCKD Deficiency in 23 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.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100)." | 7.68 | Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. ( Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M, 1990) |
| " Maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) represent the most commonly encountered abnormal organic acidurias." | 4.81 | Branched-chain organic acidurias. ( Ogier de Baulny, H; Saudubray, JM, 2002) |
| " When the present method was applied to infant urine specimens from normal controls and patients with inherited metabolic diseases such as phenylketonuria, maple syrup urine disease, methylmalonic aciduria or isovaleric aciduria, each I pattern of bar graph more distinctly displayed quantitative abundances of urinary AAs and CAs in qualitative I scale, thus allowing graphic discrimination between normal and abnormal states." | 3.73 | Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state. ( Kim, KR; Lee, HJ; Paik, MJ, 2005) |
| " Five had methylmalonic acidemia, three had isovaleric acidemia, and one had maple syrup urine disease." | 3.69 | Pancreatitis in patients with organic acidemias. ( Bonham, J; Clarke, JT; Durie, P; Kahler, SG; Lawless, ST; Leonard, JV; Sherwood, WG; Taylor, CJ; Woolf, D; Zaritsky, A, 1994) |
| "The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100)." | 3.68 | Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. ( Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M, 1990) |
| "Low-dose continuous infusions of [2H5]phenylalanine, [1-13C]propionate, and [1-13C]leucine were used to quantitate phenylalanine hydroxylation in phenylketonuria (PKU, four subjects), propionate oxidation in methylmalonic acidaemia (MMA, four subjects), and propionic acidaemia (PA, four subjects) and leucine oxidation in maple syrup urine disease (MSUD, four subjects)." | 3.68 | In vivo enzyme activity in inborn errors of metabolism. ( Halliday, D; Leonard, JV; Thompson, GN; Walter, JH, 1990) |
| "The French experience in the long term follow-up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported." | 3.67 | Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). ( Guibaud, P; Rousson, R, 1984) |
| "We review the outcome of patients with maple syrup urine disease (14 classical patients and three variants), biotinidase deficiency (two patients) and non-cofactor-responsive variants of methylmalonic acidaemia (eight patients), propionic acidaemia (eight patients) and isolated 3-methylcrotonyl CoA carboxylase deficiency (three patients)." | 3.67 | The management and long term outcome of organic acidaemias. ( Bartlett, K; Daish, P; Leonard, JV; Naughten, ER, 1984) |
| "Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16 patients with neonatal maple syrup urine disease (MSUD), 11 methylmalonic acidaemia, (MMA) seven propionic acidaemias (PA) and seven isovaleric acidaemias (IVA), and by comparing this personal series with similar reported cases." | 3.67 | Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. ( Charpentier, C; Coudé, FX; Depondt, E; Frézal, J; Mitchell, G; Munnich, A; Ogier, H; Rey, F; Rey, J; Saudubray, JM, 1984) |
| " The spectra and retention times of abnormal peaks found on chromatography of urine from patients with methylmalonic aciduria, maple syrup urine disease, and lactic aciduria were recorded and compared with those obtained for group of pure organic acids." | 3.67 | Use of a diode array detector in investigation of neonatal organic aciduria. ( Allen, KR; Khan, R; Watson, D, 1985) |
| " The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria." | 3.66 | [Human fibroblast bank for studying amino acid disorders and organic acidemias]. ( del Valle, JA; Merinero, B; Pérez-Cerdá, C; Ugarte, M, 1982) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 15 (65.22) | 18.7374 |
| 1990's | 4 (17.39) | 18.2507 |
| 2000's | 3 (13.04) | 29.6817 |
| 2010's | 1 (4.35) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ross, LF | 1 |
| Paik, MJ | 1 |
| Lee, HJ | 1 |
| Kim, KR | 1 |
| Lai, YC | 1 |
| Huang, HP | 1 |
| Tsai, IJ | 1 |
| Tsau, YK | 1 |
| Bartlett, K | 2 |
| Rousson, R | 1 |
| Guibaud, P | 1 |
| Leonard, JV | 3 |
| Daish, P | 1 |
| Naughten, ER | 1 |
| Saudubray, JM | 2 |
| Ogier, H | 1 |
| Charpentier, C | 1 |
| Depondt, E | 1 |
| Coudé, FX | 1 |
| Munnich, A | 1 |
| Mitchell, G | 1 |
| Rey, F | 1 |
| Rey, J | 1 |
| Frézal, J | 1 |
| Jakobs, C | 1 |
| Sweetman, L | 1 |
| Nyhan, WL | 2 |
| del Valle, JA | 1 |
| Merinero, B | 1 |
| Pérez-Cerdá, C | 1 |
| Ugarte, M | 1 |
| Kahler, SG | 1 |
| Sherwood, WG | 1 |
| Woolf, D | 1 |
| Lawless, ST | 1 |
| Zaritsky, A | 1 |
| Bonham, J | 1 |
| Taylor, CJ | 1 |
| Clarke, JT | 1 |
| Durie, P | 1 |
| Johnson, AW | 1 |
| Mills, K | 1 |
| Clayton, PT | 1 |
| Ogier de Baulny, H | 1 |
| Snyderman, SE | 1 |
| Piccardo, M | 1 |
| Tassara, F | 1 |
| Vico, L | 1 |
| Woolf, LI | 1 |
| Ota, K | 1 |
| Parsons, HG | 1 |
| Carter, RJ | 1 |
| Unrath, M | 1 |
| Snyder, FF | 1 |
| Thompson, GN | 1 |
| Walter, JH | 1 |
| Halliday, D | 1 |
| Wulfeck, BB | 1 |
| Tallal, P | 1 |
| Marsden, DL | 1 |
| Iles, RA | 1 |
| Hind, AJ | 1 |
| Chalmers, RA | 1 |
| Allen, KR | 1 |
| Khan, R | 1 |
| Watson, D | 1 |
| Kroll, S | 2 |
| Zebisch, P | 2 |
| Toussaint, W | 2 |
6 reviews available for methylmalonic acid and BCKD Deficiency
| Article | Year |
|---|---|
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
Branched-chain organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Diagnosis, Differential; Glycine; | 2002 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
[Some clinical and therapeutic aspects of organico-acidemia and organico-aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Butyrates; Humans; Maple Syrup Urine Disease; Met | 1977 |
The dietary treatment of inborn errors of metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; | 1976 |
[Vitamin dependency].
Topics: Anemia, Sideroblastic; Animals; Biotin; Crotonates; Cystathionine; gamma-Aminobutyric Acid; Glutamat | 1975 |
17 other studies available for methylmalonic acid and BCKD Deficiency
| Article | Year |
|---|---|
An ethical and policy analysis of elective transplantation for metabolic conditions diagnosed by newborn screening.
Topics: Elective Surgical Procedures; Ethics, Clinical; Health Policy; Humans; Infant, Newborn; Liver Transp | 2010 |
Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state.
Topics: Acetamides; Amino Acids; Carboxylic Acids; Child; Child, Preschool; Chromatography, Gas; Fluoroaceta | 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 |
Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).
Topics: Acids; Adolescent; Child; Child, Preschool; France; Hemiterpenes; Humans; Infant; Infant, Newborn; M | 1984 |
The management and long term outcome of organic acidaemias.
Topics: Acids; Amidohydrolases; Biotinidase; Carbon-Carbon Ligases; Humans; Infant; Infant, Newborn; Ligases | 1984 |
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
Topics: Acids; Amino Acid Metabolism, Inborn Errors; Diuresis; Exchange Transfusion, Whole Blood; Hemiterpen | 1984 |
Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Amniotic Fluid; Caproates; Female | 1984 |
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Cell Line; Cells, Cultured; Child; Child, Preschool; | 1982 |
Pancreatitis in patients with organic acidemias.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chronic Disease; Femal | 1994 |
The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots.
Topics: Biliary Atresia; Carnitine; Child; Fatty Acid Desaturases; Humans; Infant, Newborn; Maple Syrup Urin | 1996 |
Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Body Weight; Child, Pres | 1990 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylat | 1990 |
Metabolic correlates of learning disability.
Topics: Child; Child, Preschool; Female; Humans; Language Development Disorders; Language Tests; Learning Di | 1989 |
Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Child, Preschool; Glutarates; Hemiterpenes; | 1985 |
Use of a diode array detector in investigation of neonatal organic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Chromatography, Ion Exchange; Electrochemist | 1985 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora | 1972 |