Results 211 to 220 of about 45,802 (236)

Pyruvate Dehydrogenase Complex Deficiency as a Cause of Subacute Necrotizing Encephalopathy (Leigh Disease)

Pediatrics, 1987
Leigh disease is a disorder with great clinical variability and for which diverse biochemical causes have been proposed. Clarification requires rigorous correlation of biochemical abnormalities with strict morphologic diagnosis; such an unambiguous association is the subject of this report.
H A, Kretzschmar, S J, DeArmond, T K, Koch, M S, Patel, C J, Newth, K A, Schmidt, S, Packman   +6 more
openaire   +4 more sources

Deficiency of pyruvate dehydrogenase complex (PDHC) in Leigh's disease fibroblasts

Neurology, 1989
Several groups have reported abnormalities of the pyruvate dehydrogenase complex (PDHC) in cultured cells or other tissues from patients with Leigh's disease (subacute necrotizing encephalomyelopathy). We therefore undertook studies to elucidate the molecular basis of the defect of PDHC in cultured skin fibroblasts from two patients with Leigh's ...
L M, Hinman, K F, Sheu, A C, Baker, Y T, Kim, J P, Blass   +4 more
openaire   +2 more sources

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency

American Journal of Medical Genetics Part A, 2018
Lipoic acid is an essential cofactor for the mitochondrial 2‐ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe ...
Robert C. Stowe, Qin Sun, Sarah H. Elsea, Fernando Scaglia   +3 more
openaire   +2 more sources

Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging

Baylor University Medical Center Proceedings, 2022
Jasmin Rahesh, Rohan Anand
exaly