Publications by authors named "S Kilavuz"
Article Synopsis
- Biotin is a water-soluble vitamin essential for carboxylation, and its deficiency (biotinidase deficiency, BD) can be classified as partial or profound depending on serum enzyme activity levels.
- A study involving 302 patients in eastern Türkiye assessed various factors such as age, family history, and genetic mutations related to BD, with the majority diagnosed through neonatal screening.
- The research identified 306 variants of the BTD gene, with the most common genetic mutations being c.410G>A (p.Arg137His) and c.1270G>C (p.Asp424His), and specific genotypes were linked to more severe deficiency symptoms.
Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b. This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.
View Article and Find Full Text PDFObjectives: Phenylalanine hydroxylase (PAH) is predominantly a hepatic enzyme that catalyzes phenylalanine (Phe) into tyrosine, which is the rate-limiting step in Phe catabolism. Biallelic variants in the gene cause PAH enzyme deficiency. Phenylketonuria (PKU) is an autosomal recessive disorder that causes neurologic, behavioral, and dermatological findings.
View Article and Find Full Text PDFAim: Phenylketonuria (PKU) is an inherited metabolic disorder in which accumulation of phenylalanine (Phe) leads to poor neurological outcomes without treatment. Dietary therapy is the main treatment and nonadherence is associated with elevated blood Phe levels and correspondingly poor neuropsychiatric outcomes. This study aimed to examine the effect of home visits on blood Phe levels in PKU patients.
View Article and Find Full Text PDFBackground: Ethylmalonic encephalopathy (EE) is a rare intoxication-type metabolic disorder with multisystem involvement. It is caused by mutations in ETHE1, which encodes the ETHE1 enzyme in the mitochondrial matrix that plays a key role in hydrogen sulfide (HS) detoxification acting as a sulphur dioxygenase.
Results: This review focuses on the clinical, metabolic, genetic and neuroradiological features of 70 reported cases, including two new cases.