baclofen 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.
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 | 0 (0.00) | 24.3611 |
2020's | 1 (100.00) | 2.80 |
Authors | Studies |
---|---|
Horton, L | 1 |
Henry, M | 1 |
Conway, R | 1 |
Kumar, B | 1 |
1 other study available for baclofen and Pyruvate Dehydrogenase Complex Deficiency Disease
Article | Year |
---|---|
An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
Topics: Baclofen; Carnitine; Child, Preschool; Diagnosis, Differential; Diet, Ketogenic; Humans; Leigh Disea | 2021 |