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Primary ovarian insufficiency in Classic Galactosemia: a systematic review.
J Endocrinol Invest
January 2025
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, 40138, Italy.
Purpose: Galactosemia is a rare inborn error of galactose metabolism. There are several forms, the most severe being classic galactosemia (CG), which begins in the first few days of life. Nowadays, it is possible to screen CG at birth, averting acute decompensation or death through diet.
View Article and Find Full Text PDFResults of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.
J Clin Pharmacol
November 2024
Applied Therapeutics Inc., New York, NY, USA.
Article Synopsis
- A study called ACTION-Galactosemia Kids evaluated the effects of govorestat, a drug for Classic Galactosemia, on children aged 2-17 by comparing it to a placebo over 18 months.
- Govorestat showed a significant and lasting reduction in plasma galactitol levels, leading to stabilization or improvement in various clinical measures like behavior and daily living skills, while the placebo group showed decline.
- Despite its benefits, govorestat did not show improvements in speech or gross motor skills, and both the drug and placebo groups experienced similar rates of adverse effects, indicating it is safe and well tolerated.
Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program.
Acta Med Philipp
October 2024
Section of Clinical and Metabolic Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila.
Background: Newborns screened positive for Galactosemia through Expanded Newborn Screening (ENBS) with borderline levels undergo lactose challenge that requires interruption of breastfeeding temporarily then shifting to soy-based formula.
Objective: To determine the percentage of Classical Galactosemia (CGal), Non-classical Galactosemia (NCGal), probable mild variant form, and negative Galactosemia among newborns screened positive for Galactosemia who underwent lactose challenge.
Methods: This is a retrospective study.
Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency.
BMC Pediatr
September 2024
Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.
Article Synopsis
- The study presents a rare case of two 9-year-old twins with galactose mutarotase (GALM) deficiency who have remained asymptomatic, even after gradually reintroducing galactose into their diet after a period of strict dietary restriction.
- Initial detection was through newborn screening, leading to biochemical normalization after dietary adjustments; the genetic analysis revealed a complete deletion of a specific exon in the GALM gene.
- The findings suggest that dietary liberalization may not negatively affect health in GALM deficiency, prompting further exploration into dietary management for this condition.
Motor Milestones: Sensory Motor Trends of Young Children with Classic Galactosemia.
J Occup Ther Sch Early Interv
March 2023
College of Health Solutions, Arizona State University, Tempe, AZ, United States.
Speech problems affect about 66% of children with classic galactosemia (CG), but little is known about early motor and sensory motor development in this at-risk population (Rubio-Gozalbo et al., 2019). Research has been focused on speech and language development leaving a paucity of data on motor and sensory differences.
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