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Your search keyword '"Bergheim C"' showing total 2 results
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2 results on '"Bergheim C"'

1. Late-Presenting Duodenal Web.

Author

Zimmer V and Bergheim C

Subjects
Child, Preschool, Digestive System Abnormalities complications, Digestive System Abnormalities therapy, Dilatation, Duodenal Obstruction etiology, Duodenal Obstruction therapy, Endoscopy, Gastrointestinal, Humans, Male, Digestive System Abnormalities diagnosis, Duodenal Obstruction diagnosis, Duodenum abnormalities
Published
2020
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2. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

Author

Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, and Sperl W

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple enzymology, Acidosis, Lactic genetics, Amino Acid Sequence, Base Sequence, Chromosomes, Human, Pair 4, Consanguinity, Epilepsy diagnosis, Epilepsy enzymology, Escherichia coli genetics, Escherichia coli growth & development, Fatal Outcome, Fibroblasts metabolism, Gene Expression, Glycine urine, Homozygote, Humans, Infant, Newborn, Infant, Newborn, Diseases diagnosis, Infant, Newborn, Diseases enzymology, Infant, Newborn, Diseases genetics, Male, Mitochondria enzymology, Molecular Sequence Data, Muscle Hypotonia genetics, Muscle, Skeletal enzymology, Mutation, Missense, Pyruvate Dehydrogenase Complex genetics, Pyruvate Dehydrogenase Complex metabolism, Sequence Analysis, DNA, Abnormalities, Multiple genetics, Energy Metabolism genetics, Epilepsy genetics, Glycine blood, Mitochondria metabolism, Sulfurtransferases deficiency
Abstract

Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched chain amino acids and in the glycine cleavage. Lipoic acid is synthesized stepwise within mitochondria through a process that includes lipoic acid synthetase. We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Investigation of the mitochondrial energy metabolism showed reduced oxidation of pyruvate and decreased pyruvate dehydrogenase complex activity. A pronounced reduction of the prosthetic group lipoamide was found in lipoylated proteins., (Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Published
2011
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