aspartic acid has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 3 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
Pyruvate Dehydrogenase Complex Deficiency Disease: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Excerpt | Relevance | Reference |
---|---|---|
"Treatment with arginine aspartate showed complete clinical and biochemical recovery." | 1.35 | Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation. ( Eusébio, F; Gaspar, A; João Silva, M; Pinheiro, A; Rivera, I; Tavares de Almeida, I, 2009) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (33.33) | 18.2507 |
2000's | 2 (66.67) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Brown, RM | 1 |
Head, RA | 1 |
Boubriak, II | 1 |
Leonard, JV | 1 |
Brown, GK | 1 |
João Silva, M | 1 |
Pinheiro, A | 1 |
Eusébio, F | 1 |
Gaspar, A | 1 |
Tavares de Almeida, I | 1 |
Rivera, I | 1 |
Rubio-Gozalbo, ME | 1 |
Heerschap, A | 1 |
Trijbels, JM | 1 |
De Meirleir, L | 1 |
Thijssen, HO | 1 |
Smeitink, JA | 1 |
3 other studies available for aspartic acid and Pyruvate Dehydrogenase Complex Deficiency Disease
Article | Year |
---|---|
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
Topics: Amino Acid Substitution; Aspartic Acid; Catalytic Domain; DNA Mutational Analysis; DNA, Complementar | 2003 |
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
Topics: Arginine; Aspartic Acid; Blotting, Western; Child; DNA Mutational Analysis; Gene Expression; Humans; | 2009 |
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Topics: Alanine; Aspartic Acid; Binding Sites; Brain; Choline; Corpus Striatum; Creatine; Humans; Infant; La | 1999 |