Background: Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine (Phe) metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Patients with PKU rely on amino acid mixtures and low-protein diets, which often exhibit an acidic nature and pose various challenges to oral health. The objective of the study was to evaluate oral care habits of PKU patients in Latvia and the impact of the recommendations developed on improving oral care.
View Article and Find Full Text PDFBackground: Acute lymphoblastic leukaemia (ALL) is the most common malignancy in childhood. Despite numerous investigations very little is still known about its aetiology. However, in one genome wide association study conducted to identify the possible genetic risk factors, two allelic variations rs10821936 and rs10994982 in the 3rd intron of the ARID5B gene were identified as possible ALL risk alleles.
View Article and Find Full Text PDFBackground: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q.
Methods: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.
Aim: To determine the frequencies of mutations that cause inherited monogenic liver disorders in patients with chronic hepatitis C.
Methods: This study included 86 patients with chronic hepatitis C (55 men, 31 women; mean age at diagnosis, 38.36 ± 14.