The levels of UDPglucose and UDPgalactose (UDPGal) have been measured in erythrocytes of seven patients with galactokinase deficiency. Normal levels of UDPGal were found in all patients with galactokinase deficiency (McKusick 23020). This is in contrast with reduced values of UDPGal found in patients with classical galactosaemia who have complete absence of galactose-1-phosphate uridyl transferase activity. It was demonstrated that patients with galactokinase deficiency had an incomplete enzyme block in erythrocytes by direct enzyme assay, by 14CO2 production from [1-14C]galactose, and by the appearance of labelled intermediates, notably galactose-1-phosphate and UDPhexose.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF01802040 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.
JIMD Rep
July 2024
Research and Early Development BioMarin Pharmaceutical Inc. San Rafael California USA.
Classic galactosemia (CG) arises from loss-of-function mutations in the gene, which codes for the enzyme galactose-1-phosphate uridylyltransferase (GALT), a central component in galactose metabolism. The neonatal fatality associated with CG can be prevented by galactose dietary restriction, but for decades it has been known that limiting galactose intake is not a cure and patients often have lasting complications. Even on a low-galactose diet, GALT's substrate galactose-1-phosphate (Gal1P) is elevated and one hypothesis is that elevated Gal1P is a driver of pathology.
View Article and Find Full Text PDFPhenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Genet Med
August 2024
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Purpose: Galactose mutarotase (GALM) deficiency was first reported in 2019 as the fourth type of galactosemia. This study aimed to investigate the clinical and genotypic spectra of GALM deficiency.
Methods: This was a questionnaire-based retrospective survey conducted in Japan between February 2022 and March 2023.
Article Synopsis
- Galactose mutarotase (GALM) deficiency is a rare inherited metabolic disorder linked to issues in the Leloir pathway, with only eight cases reported since its discovery in 2018.
- Two siblings were studied, one with cataracts indicative of GALM deficiency and another who was asymptomatic, yet both had the same genetic mutation (p. Gly277Arg) in the GALM gene.
- The research emphasizes the need for comprehensive evaluation of galactose metabolism in patients, especially those presenting with cataracts, to accurately diagnose and understand GALM deficiency.
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.
Int J Neonatal Screen
October 2021
Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4'-epimerase (GALE), are associated with genetic galactosemia. We recently identified patients with galactosemia and biallelic variants in , encoding galactose epimerase (GALM), an enzyme that is directly upstream of GALK1.
View Article and Find Full Text PDFEffect of stereotactic body radiotherapy on regional metabolic liver function investigated in patients by dynamic [F]FDGal PET/CT.
Radiat Oncol
October 2021
Danish Centre for Particle Therapy, Aarhus University Hospital, Aarhus N, Denmark.
Purpose: Stereotactic body radiotherapy (SBRT) is increasingly used for treatment of liver tumors but the effect on metabolic liver function in surrounding tissue is largely unknown. Using 2-deoxy-2-[F]fluoro-D-galactose ([F]FDGal) positron emission tomography (PET)/computed tomography (CT), we aimed to determine a dose-response relationship between radiation dose and metabolic liver function as well as recovery.
Procedures: One male subject with intrahepatic cholangiocarcinoma and five subjects (1 female, 4 male) with liver metastases from colorectal cancer (mCRC) underwent [F]FDGal PET/CT before SBRT and after 1 and 3 months.
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!