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http://dx.doi.org/10.1590/1516-4446-2018-0356 | DOI Listing |
Mol Genet Metab
January 2025
Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
View Article and Find Full Text PDFJ Health Econ Outcomes Res
January 2025
Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder resulting in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. This retrospective database analysis assessed the complications, resource utilization, and costs in a large cohort of patients with GSDIa. We conducted a retrospective cohort study of GSDIa patients and matched non-GSDIa comparators utilizing the PharMetrics® Plus database.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
December 2024
Department of Diabetes and Endocrinology, Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
J Clin Res Pediatr Endocrinol
January 2025
Başkent University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, Turkey
Adrenal crisis is a life threatening complication of adrenal insufficiency (AI). Its treatment is urgent and parenteral hydrocortisone (HC) should be given at 10-15 times physiological doses in this situation. If HC is not available, alternatively prednisolone or methyl prednisolone may be used.
View Article and Find Full Text PDFIndian Pacing Electrophysiol J
December 2024
National Institute of Cardiovascular Diseases, Pakistan. Electronic address:
Congenital long QT syndrome (LQTS) is a rare hereditary cardiac disorder characterized by prolongation of the QT interval on electrocardiogram (ECG), predisposing affected individuals to life-threatening arrhythmias. We present a case of a newborn with congenital LQTS and 2:1 atrioventricular (AV) block who presented with bradycardia and QT prolongation. Continuous intravenous lidocaine infusion was initiated, because of hypoglycemia with beta-blockers, resulting in stabilization of AV conduction and prevention of malignant arrhythmias.
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