Publications by authors named "V Kozich"
Molybdenum cofactor deficiency type A has successfully been treated in a small number of children with daily intravenous administration of cyclic pyranopterin monophosphate. Pharmacodynamic data for this novel treatment have not been published and alternative dosing intervals have not been explored. We monitored pharmacodynamic biomarkers of sulfite oxidase and xanthine oxidoreductase activity in three patients with MoCD-A for a period of 2 to 9 months after discontinuation of cPMP substitution.
View Article and Find Full Text PDFALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α-Aminoadipic semialdehyde (α-AASA) and Δ-piperideine-6-carboxylate (P6C), which accumulate because of the block in the lysine pathway, are diagnostic biomarkers for this disorder.
View Article and Find Full Text PDFKomrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?
J Inherit Metab Dis
September 2024
This review summarises progress in the research of homocystinuria (HCU) in the past three decades. HCU due to cystathionine β-synthase (CBS) was discovered in 1962, and Prof. Jan Peter Kraus summarised developments in the field in the first-ever Komrower lecture in 1993.
View Article and Find Full Text PDFArticle Synopsis
- Cystathionine β-synthase (CBS)-deficient homocystinuria (HCU) is a genetic disorder affecting sulfur amino acid metabolism, leading to various health complications and underscoring the need for better understanding of its biological processes.
- In a study involving a transgenic mouse model (I278T), researchers found significant metabolic imbalances, altered liver proteome, and changes in sphingolipid metabolism, although mitochondrial function appeared normal.
- A methionine-restricted diet (MRD) was shown to improve metabolic balance and reduce liver proteome disruptions in I278T mice, suggesting potential therapeutic benefits for HCU.
Background: In animals, dietary sulfur amino acid restriction (SAAR) improves metabolic health, possibly mediated by altering sulfur amino acid metabolism and enhanced anti-obesogenic processes in adipose tissue.
Aim: To assess the effects of SAAR over time on the plasma and urine SAA-related metabolites (sulfurome) in humans with overweight and obesity, and explore whether such changes were associated with body weight, body fat and adipose tissue gene expression.
Methods: Fifty-nine subjects were randomly allocated to SAAR (∼2 g SAA, n = 31) or a control diet (∼5.