New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Cells on April 25, 2025, titled "Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13."
Read the paper here.
Learn more about FCDGC.
Transcript:
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), a research group of the Rare Diseases Clinical Research Network.
Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome.
This summary is based on a paper published in the journal Cells on April 25, 2025.
Inherited metabolic disorders (IMDs) are a large group of genetically inherited disorders that affect the metabolism. Although there are currently about 1,450 different types of IMDs, they are individually rare, and even more rare for one individual to have two IMDs.
In this study, researchers examined metabolism changes in a patient with pathogenic variants in the PGM1 and NDUFA13 genes. The team evaluated fibroblasts from the patient, who had presented with characteristics of both PGM1-congenital disorder of glycosylation (CDG) and Leigh syndrome (mitochondrial disease) to better understand the cause of these characteristics.
Results showed a depletion of the UDP-hexose enzyme as well as impairment of complex I enzyme activity and mitochondrial function. Based on these findings, the patient was diagnosed with the first-known case of both PGM1-CDG and Leigh syndrome. Authors note that this study underlines the importance of considering the effects of multiple disease-causing variants in patients with complex clinical presentation.
Read the paper here.
Learn more about FCDGC.
Transcript:
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC), a research group of the Rare Diseases Clinical Research Network.
Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome.
This summary is based on a paper published in the journal Cells on April 25, 2025.
Inherited metabolic disorders (IMDs) are a large group of genetically inherited disorders that affect the metabolism. Although there are currently about 1,450 different types of IMDs, they are individually rare, and even more rare for one individual to have two IMDs.
In this study, researchers examined metabolism changes in a patient with pathogenic variants in the PGM1 and NDUFA13 genes. The team evaluated fibroblasts from the patient, who had presented with characteristics of both PGM1-congenital disorder of glycosylation (CDG) and Leigh syndrome (mitochondrial disease) to better understand the cause of these characteristics.
Results showed a depletion of the UDP-hexose enzyme as well as impairment of complex I enzyme activity and mitochondrial function. Based on these findings, the patient was diagnosed with the first-known case of both PGM1-CDG and Leigh syndrome. Authors note that this study underlines the importance of considering the effects of multiple disease-causing variants in patients with complex clinical presentation.
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