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aspartic acid and Pyruvate Dehydrogenase Complex Deficiency Disease

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.

Research Excerpts

ExcerptRelevanceReference
"Treatment with arginine aspartate showed complete clinical and biochemical recovery."1.35Pyruvate 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)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's2 (66.67)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Brown, RM1
Head, RA1
Boubriak, II1
Leonard, JV1
Brown, GK1
João Silva, M1
Pinheiro, A1
Eusébio, F1
Gaspar, A1
Tavares de Almeida, I1
Rivera, I1
Rubio-Gozalbo, ME1
Heerschap, A1
Trijbels, JM1
De Meirleir, L1
Thijssen, HO1
Smeitink, JA1

Other Studies

3 other studies available for aspartic acid and Pyruvate Dehydrogenase Complex Deficiency Disease

ArticleYear
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
    Human mutation, 2003, Volume: 22, Issue:6

    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.
    European journal of pediatrics, 2009, Volume: 168, Issue:1

    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.
    Magnetic resonance imaging, 1999, Volume: 17, Issue:6

    Topics: Alanine; Aspartic Acid; Binding Sites; Brain; Choline; Corpus Striatum; Creatine; Humans; Infant; La

1999