Page last updated: 2024-10-23

baclofen and Pyruvate Dehydrogenase Complex Deficiency Disease

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.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Horton, L1
Henry, M1
Conway, R1
Kumar, B1

Other Studies

1 other study available for baclofen and Pyruvate Dehydrogenase Complex Deficiency Disease

ArticleYear
An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
    Clinical pediatrics, 2021, Volume: 60, Issue:9-10

    Topics: Baclofen; Carnitine; Child, Preschool; Diagnosis, Differential; Diet, Ketogenic; Humans; Leigh Disea

2021