Abstract
We report a patient with necrotizing encephalomyelopathy (Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying mutation is an A to C transversion in the pyruvate dehydrogenase complex E1 alpha subunit gene. As the E1 alpha subunit is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheritance.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Amino Acid Sequence
-
Aspartic Acid
-
Base Sequence
-
Brain Stem / pathology
-
Cells, Cultured
-
Cesarean Section
-
Citrate (si)-Synthase / metabolism
-
DNA / genetics
-
DNA / isolation & purification
-
Exons
-
Fibroblasts / pathology
-
Fibroblasts / physiology
-
Gestational Age
-
Humans
-
Infant, Newborn
-
Leigh Disease / genetics*
-
Leigh Disease / pathology
-
Leukocytes / physiology
-
Male
-
Mitochondria, Heart / enzymology
-
Mitochondria, Liver / enzymology
-
Molecular Sequence Data
-
Necrosis
-
Oligodeoxyribonucleotides
-
Point Mutation
-
Pyruvate Dehydrogenase Complex / genetics*
-
Pyruvate Dehydrogenase Complex / metabolism
-
Skin / pathology
-
Skin / physiopathology
-
X Chromosome*
Substances
-
Oligodeoxyribonucleotides
-
Pyruvate Dehydrogenase Complex
-
Aspartic Acid
-
DNA
-
Citrate (si)-Synthase