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Urine organic acid metabolomic profiling by gas chromatography mass spectrometry: Assessment of solvent extract evaporation parameters on the recovery of key diagnostic metabolites.
Clin Chim Acta
January 2025
Department of Medical Biochemistry, Immunology & Toxicology, University Hospital Wales, Cardiff CF14 4XW, UK; School of Medicine, Cardiff University, University Hospital Wales, Cardiff CF14 4XN, UK.
Background: Analysis of urinary organic acids (UOAs) by gas chromatography mass-spectrometry (GC-MS) is widely used in metabolomic studies. It is a complex test with many limitations and pitfalls yet there is limited evidence in the literature to support best practice. This study investigated the impact of drying down time and temperature on the recovery of 16 key analytes from solvent extracts.
View Article and Find Full Text PDFA rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient.
Mol Genet Metab Rep
December 2024
Department of Pediatrics, Lumbini Medical College, Palpa, Nepal.
Article Synopsis
- Fructose-1, 6-bisphosphatase deficiency is a rare genetic disorder affecting fructose metabolism, primarily disrupting gluconeogenesis, and can lead to serious complications like hypoglycemia and lactic acidosis.
- A case from Western Nepal was initially misdiagnosed as pneumonia; the patient exhibited severe metabolic issues, including dehydration and respiratory distress, with consistently elevated lactate levels.
- The diagnosis was eventually confirmed through urine tests and whole exome sequencing, marking the first reported case of this condition in Nepal.
Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study.
Mol Genet Metab
October 2024
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address:
Background: Cohort data on continuous glucose monitoring (CGM) metrics are scarce for liver glycogen storage diseases (GSDs) and idiopathic ketotic hypoglycemia (IKH). The aim of this study was to retrospectively describe CGM metrics for people with liver GSDs and IKH.
Patients And Methods: CGM metrics (descriptive, glycemic variation and glycemic control parameters) were calculated for 47 liver GSD and 14 IKH patients, categorized in cohorts by disease subtype, age and treatment status, and compared to published age-matched CGM metrics from healthy individuals.
Transitioning to Insulin Analogs in Tunisian Children with Type 1 Diabetes: Efficacy and Safety.
Tunis Med
August 2024
Pediatrics and Neonatology departement , Yasminette Ben Arous , Tunisia. University El Manar, Faculty of Medecine of Tunis.
Introduction: there is a lack of research evaluating the impact of therapeutic switching from human insulin to analogues, particularly in paediatric populations from low- and middle-income countries.
Aim: The study aimed to retrospectively assess the effectiveness and safety of transitioning from human insulin to insulin analogs in Tunisian children with diabetes.
Methods: This retrospective descriptive study included children with type 1 diabetes who changed their insulin therapy protocol after at least one year of treatment with human insulin.
Clinical Profile and Efficacy of Long-Acting Octreotide in Hyperinsulinemic Hypoglycaemia.
Indian J Endocrinol Metab
June 2024
Department of Paediatrics and Paediatric Endocrinology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Introduction: Hyperinsulinemic hypoglycaemia (HH) is characterised by unregulated insulin secretion, leading to persistent non-ketotic hypoglycaemia with a lack of alternate fuel that induces a severe risk for brain damage and neurodevelopmental abnormalities. Octreotide, a somatostatin analogue, has been effectively administered as subcutaneous injections or depot preparations in diazoxide-unresponsive HH.
Methods: Children and infants with HH receiving short-acting octreotide injections were included.
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