Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1469-1809.1962.tb01318.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity.
Anal Biochem
October 2023
Department of Medical Biochemistry, Faculty of Medicine, Ege University, Bornova, Izmir, 35100, Turkey.
Galactosemia is a carbohydrate metabolism disorder often caused by galactose-1-phosphate uridyl transferase (GALT) deficiency. Detecting GALT deficiency involves measuring intra-erythrocyte enzyme activity. We aimed to create a robust liquid chromatography-mass spectrometry (LC-MS/MS) method to assess GALT activity in dried blood spot (DBS) samples.
View Article and Find Full Text PDFNovel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Ann Hum Genet
November 2023
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Article Synopsis
- Classic galactosemia is a genetic disorder caused by a deficiency in the GALT enzyme, leading to complications despite a restricted diet.
- The study involved 77 patients, identifying 18 genetic variants, including 4 novel ones, and linking certain variants with long-term issues like intellectual disability and cataracts.
- Findings emphasize the importance of precise genetic testing, such as Sanger sequencing, for diagnosing metabolic disorders and understanding their impact on patients over time.
Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
J Trop Pediatr
October 2022
Department of Clinical Genetics. İzmir Health Sciences University, Tepecik Education and Research Hospital, Izmir 35210, Turkey.
Background: Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it is not diagnosed and treated in early periods of life. Clinical findings usually occur in the neonatal period after the neonate is fed with milk that contains galactose. Most patients are presented with jaundice, hepatomegaly, hypoglycemia and cataracts.
View Article and Find Full Text PDFHigh-Throughput Sequencing Reveals the Loss-of-Function Mutations in Cause Recessive Classical Galactosemia.
Front Pediatr
August 2020
Department of Newborn Screening Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase () gene. This study aim to identify pathogenic mutations underlying classic galactosemia in two Chinese families. We collected blood samples from two Chinese families and extracted genomic DNA.
View Article and Find Full Text PDFFive years of screening for galactosaemia in South Africa: Pitfalls of using Benedict's test and thin layer chromatography to screen for galactosaemia in a developing country.
Clin Chim Acta
June 2020
Department of Chemical Pathology, Faculty of Health Sciences, University of Pretoria and National Health Laboratory Service Tshwane Academic Division, Pretoria, South Africa; Division of Chemical Pathology, University of Cape Town, South Africa. Electronic address:
Background: The objective of the study was to investigate the effectiveness of screening for hereditary galactosaemia with Benedict's test and thin layer chromatography (TLC) in a tertiary laboratory from a developing country.
Methods: We retrospectively analysed the results of tests done in suspected galactosaemia patients including Benedict's test, thin layer chromatography, GALT activity and DNA analysis.
Results: 878 paediatric patients were screened with Benedict's test; the age range was 5 days to 19 years.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!