lactic acid has been researched along with BCKD Deficiency in 11 studies
Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies." | 7.68 | Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. ( Barness, LA; Davidson, SR; Harding, CO; Van Calcar, SC; Wolff, JA, 1992) |
| "Three different inherited disorders are known in which thiamine may exert a beneficial effect: maple syrup urine disease (MSUD), lactic acidaemia and the syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus." | 4.77 | Thiamine-responsive inborn errors of metabolism. ( Duran, M; Wadman, SK, 1985) |
| "We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies." | 3.68 | Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. ( Barness, LA; Davidson, SR; Harding, CO; Van Calcar, SC; Wolff, JA, 1992) |
| "N-Lactylvaline, N-lactylleucine, N-lactylisoleucine and the N-2-hydroxyisovaleryl conjugates of glycine, valine, leucine and isoleucine have been identified in urine from a patient with the intermediate type of maple syrup urine disease." | 3.67 | New conjugated urinary metabolites in intermediate type maple syrup urine disease. ( Hagenfeldt, L; Naglo, AS, 1987) |
| " 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) |
| "PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations." | 1.36 | Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. ( Briones, P; Font, A; Pineda, M; Quintana, E; Ribes, A; Tort, F; Vilaseca, MA, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (45.45) | 18.7374 |
| 1990's | 2 (18.18) | 18.2507 |
| 2000's | 1 (9.09) | 29.6817 |
| 2010's | 2 (18.18) | 24.3611 |
| 2020's | 1 (9.09) | 2.80 |
| Authors | Studies |
|---|---|
| Xu, J | 1 |
| Jakher, Y | 1 |
| Ahrens-Nicklas, RC | 1 |
| Quintana, E | 1 |
| Pineda, M | 1 |
| Font, A | 1 |
| Vilaseca, MA | 1 |
| Tort, F | 1 |
| Ribes, A | 1 |
| Briones, P | 1 |
| Terek, D | 1 |
| Koroglu, O | 1 |
| Yalaz, M | 1 |
| Gokben, S | 1 |
| Calli, C | 1 |
| Coker, M | 1 |
| Kultursay, N | 1 |
| Jan, W | 1 |
| Zimmerman, RA | 1 |
| Wang, ZJ | 1 |
| Berry, GT | 1 |
| Kaplan, PB | 1 |
| Kaye, EM | 1 |
| Cremer, JE | 1 |
| Teal, HM | 1 |
| Cunningham, VJ | 1 |
| Kuroda, Y | 1 |
| Naito, E | 1 |
| Van Calcar, SC | 1 |
| Harding, CO | 1 |
| Davidson, SR | 1 |
| Barness, LA | 1 |
| Wolff, JA | 1 |
| Hagenfeldt, L | 1 |
| Naglo, AS | 1 |
| Duran, M | 1 |
| Wadman, SK | 1 |
| Allen, KR | 1 |
| Khan, R | 1 |
| Watson, D | 1 |
| Kolodny, EH | 1 |
| Yatziv, S | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders[NCT02935283] | 56 participants (Anticipated) | Observational | 2016-08-31 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
3 reviews available for lactic acid and BCKD Deficiency
| Article | Year |
|---|---|
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
Topics: Amino Acids, Branched-Chain; Aspartic Acid; Brain; Central Nervous System; Disease Susceptibility; G | 2020 |
[Vitamin B1 dependency].
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Acyltransferases; Anemia, Megaloblastic; Diagnosi | 1998 |
Thiamine-responsive inborn errors of metabolism.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Anemia, Macrocytic; Anemia, Megaloblastic; Child; | 1985 |
8 other studies available for lactic acid and BCKD Deficiency
| Article | Year |
|---|---|
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Topics: Acidosis, Lactic; Adult; Amino Acid Sequence; Base Sequence; Biomarkers; Blepharoptosis; Cells, Cult | 2010 |
Diagnostic tools of early brain disturbances in an asymptomatic neonate with maple syrup urine disease.
Topics: Aspartic Acid; Brain Diseases; Brain Waves; Consanguinity; Developmental Disabilities; Diet; Diet, C | 2013 |
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Aspartic Acid; Basal | 2003 |
Inhibition, by 2-oxo acids that accumulate in maple-syrup-urine disease, of lactate, pyruvate, and 3-hydroxybutyrate transport across the blood-brain barrier.
Topics: 3-Hydroxybutyric Acid; Animals; Blood-Brain Barrier; Brain; Humans; Hydroxybutyrates; Keto Acids; Ki | 1982 |
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.
Topics: Adult; Amino Acids; Carbon-Carbon Ligases; Carnitine; Citrates; Citric Acid; Female; Fetal Growth Re | 1992 |
New conjugated urinary metabolites in intermediate type maple syrup urine disease.
Topics: Amino Acids; Amino Acids, Branched-Chain; Carboxylic Acids; Female; Gas Chromatography-Mass Spectrom | 1987 |
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 |
Laboratory approaches for inherited neurometabolic diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Galactosemias; Homocystinuria; Humans; Lactates; Lact | 1985 |