Publications by authors named "Katja S Brocke Holmefjord"
Mol Genet Metab
June 2021
Article Synopsis
- Phosphoglucomutase 1 deficiency (PGM1-CDG) is a genetic disorder affecting carbohydrate metabolism, leading to varied health issues including hypoglycemia and growth delays in infants.
- Early diagnosis and treatment with D-galactose can significantly improve outcomes, but many cases go undetected due to lack of neonatal screening.
- A study analyzed eleven infants with PGM1-CDG, finding common symptoms like hypoglycemia and facial abnormalities, while also demonstrating that modified screening tests could help identify the condition at birth, underscoring the need for better awareness and screening programs.
Article Synopsis
- Phosphoglucomutase-1 deficiency (PGM1-CDG) is a type of genetic disorder, and a pilot study was conducted to evaluate the effects of oral D-galactose (D-gal) supplementation on nine patients with this condition.
- The study involved increasing D-gal intake to 1.5 g/kg/day over 18 weeks, monitoring safety and improvements in various health markers; results showed that eight patients had no adverse effects and experienced improvements in liver and coagulation function.
- In vitro tests demonstrated that D-gal treatment helped correct cellular glycosylation issues, improving overall glycoprotein profiles and suggesting that D-gal is a safe and effective treatment for PGM1
Article Synopsis
- - The study aimed to categorize patients with phosphoglucomutase-1 deficiency (PGM1-CDG) into phenotypic groups and identify factors predicting disease severity using the Tulane PGM1-CDG Rating Scale (TPCRS).
- - Researchers evaluated 27 patients, finding a significant difference in TPCRS scores across the phenotypic groups, but no correlation between genotype, enzyme activity, and the TPCRS score.
- - They identified five key clinical features—congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth—that can predict disease severity, with some assessable through physical examination for quicker diagnosis and treatment.
Article Synopsis
- Synaptic function is crucial for brain activities, and studying patients missing specific synaptic proteins helps deepen our understanding of this function.
- The research highlights a rare disease linked to the absence of the synaptic protein CNKSR2, affecting individuals aged 6 to 62, resulting in various neurological issues.
- Key symptoms of CNKSR2 deficiency include intellectual disability, attention difficulties, and sudden loss of language skills following early childhood epilepsy, shedding light on its role in broader neurological disorders.
