Publications by authors named "G Gokcay"
Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.
J Pediatr Endocrinol Metab
January 2025
Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).
View Article and Find Full Text PDFCystathionine beta-synthase deficiency (CBSD) is the most prevalent inherited disorder of homocysteine metabolism in the transsulphuration pathway. Research have suggested oxidative stress and inflammation as candidate pathogenic mechanisms in CBSD. This study aims to evaluate mitochondrial dysfunction and oxidative stress biomarkers in cystathionine beta-synthase deficiency (CBSD) patients, which may aid in understanding the pathogenesis of CBSD and improving treatment.
View Article and Find Full Text PDFAlpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood. The purpose of this report is to define clinical variations and follow-up data in AMACR deficiency emphasizing treatment with a review of cases reported in the literature. Here, four patients, from two families, diagnosed with AMACR deficiency and showing phenotypic heterogeneity are presented.
View Article and Find Full Text PDFArticle Synopsis
- PKU is caused by a lack of phenylalanine hydroxylase, affecting the conversion of phenylalanine to tyrosine, and the study involved 74 patients averaging 21.7 years old, assessing their menstrual cycles and PMS symptoms.
- 82.4% of the participants had regular cycles, with 39.1% experiencing PMS symptoms, and issues like menorrhagia and dysmenorrhea were noted in a small percentage.
- However, the study found no significant link between the severity of PMS symptoms and blood phenylalanine levels, suggesting that better awareness and management of PMS could enhance the quality of life for women with PKU.
Background/aim: Microbiota awareness, nutritional literacy, and health literacy levels in adolescents have a significant impact on their health and well-being. This research was conducted to examine the relationship between microbiota awareness, nutrition literacy, and health literacy in adolescents.
Material And Methods: This research was structured with a descriptive-correlational design.