Publications by authors named "Marcella Vendemiale"
Living with phenylketonuria in adulthood: The PKU ATTITUDE study.
Mol Genet Metab Rep
September 2018
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey ( = 111; response rate 94%) were asked to complete a structured questionnaire.
View Article and Find Full Text PDFArticle Synopsis
- Propionic acidemia is a rare genetic metabolic disorder that can lead to high ammonia levels due to impaired urea synthesis, and N-carbamylglutamate has been shown to help manage hyperammonemia in these patients.
- A case study involving a male patient treated continuously with N-acetylglutamate for six years showed a significant reduction in plasma ammonia levels and fewer hyperammonemia episodes compared to before treatment.
- The findings indicate potential benefits of long-term N-acetylglutamate administration, suggesting the need for further research to refine dosages and evaluate interactions with other treatments.
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat.
View Article and Find Full Text PDFObjective: In children with type 1 diabetes mellitus (T1DM), elevated levels of antitissue transglutaminase (anti-tTG) antibody may spontaneously normalize, despite continued consumption of gluten. We aimed to investigate the prevalence of spontaneous normalization of anti-tTG levels and the existence of factors predictive for this outcome.
Research Design And Methods: All children referred from 2002 to 2012 were screened for celiac disease (CD) at diabetes onset and at specific intervals.