dihydrolipoamide has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 1 studies
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 |
|---|---|---|
| "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 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Quintana, E | 1 |
| Pineda, M | 1 |
| Font, A | 1 |
| Vilaseca, MA | 1 |
| Tort, F | 1 |
| Ribes, A | 1 |
| Briones, P | 1 |
1 other study available for dihydrolipoamide and Pyruvate Dehydrogenase Complex Deficiency Disease
| 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 |