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Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.
TLDR
This treatment led rapidly to clinical improvement that included the permanent disappearance of chronic cardiomyopathy, rhabdomyolysis, and muscle weakness in three patients with very-long-chain acyl-CoA dehydrogenase deficiency and opens new avenues for the management of patients with mitochondrial fat oxidation disorders.
Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree.
TLDR
For the first time, SPM has been linked to a toxin in seeds abundant on autumn pastures whose identified metabolite, MCPA, is known to cause acquired MADD, the pathological mechanism behind SPM and AM.
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
TLDR
Inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) are identified in consanguineous families with autism, epilepsy, and intellectual disability and represents a potentially treatable syndrome.
Increased anion gap metabolic acidosis as a result of 5-oxoproline (pyroglutamic acid): a role for acetaminophen.
TLDR
The chronic ingestion of acetaminophen, especially by malnourished women, may generate high anion gap metabolic acidosis, and this undoubtedly is an underdiagnosed condition because measurements of serum and/or urinary 5-oxoproline levels are not readily available.
Hypoglycin A Concentrations in Seeds of Acer Pseudoplatanus Trees Growing on Atypical Myopathy‐Affected and Control Pastures
TLDR
Preventing horses from grazing pastures containing A. pseudoplatanus seeds during late fall and early spring might be the best means to prevent atypical myopathy in Europe.
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.
TLDR
The latter two compounds are readily detoxified by the formation of N-acylglycine conjugates in liver, which may prevent large accumulations and could explain why hyperammonemia is not characteristic of patients with beta-ketothiolase deficiency or isovaleric acidemia in whom these compounds would be expected to be elevated.
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
TLDR
Results indicate that in the human, there is an isobutyryl-CoA dehydrogenase which exists as a separate enzyme serving only the valine pathway in addition to the 2-methyl branched-chain dehydrogen enzyme which serves both the valines and the isoleucine pathways in both rat and human.
Identification of methylenecyclopropyl acetic acid in serum of European horses with atypical myopathy.
TLDR
Atypical Myopathy in Europe, like seasonal pasture myopathy in North America, is highly associated with the toxic metabolite of hypoglycin A, MCPA-carnitine.
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
TLDR
This study provides a rationale for extending the anaplerotic approach with triheptanoin in HD and assessed peripheral markers of short-term efficacy that were shown to be altered in the early stages of HD, that is, low serum IGF1 and 31P-NMR spectroscopy in muscle.
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