Meryem Karaca
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View article: Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency
Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency Open
Fibroblast growth factor 21 (FGF21), a pleiotropic hormone, is a significant modulator of energy homeostasis. We evaluated serum FGF21 levels in patients with a deficiency of mitochondrial aminoacyl-tRNA synthetase (mt-aARSs). Six patients…
View article: A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics Open
Background Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine. Diagnosis and prompt initiation of appropriate treatment shortly after …
View article: Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency
Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency Open
Fibroblast growth factor 21 (FGF21), a pleiotropic hormone, is a significant modulator of energy homeostasis. We evaluated serum FGF21 levels in patients with a deficiency of mitochondrial aminoacyl t-RNA synthetase (aARSs). Six patients w…
View article: Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant
Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant Open
Background. Citrin deficiency (CD), caused by mutations in the SLC25A13 gene, is a rare autosomal recessive urea cycle disorder with variable clinical presentations depending on age. These include neonatal intrahepatic cholestasis (NICCD),…
View article: How to interpret stroke-like attacks in the context of mitochondrial disease
How to interpret stroke-like attacks in the context of mitochondrial disease Open
Introduction: Stroke-like attacks are defined as events characterized by the sudden onset of neurological symptoms with clinical manifestations similar to those of a stroke. However, they are distinguished by the presence of radiological l…
View article: Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics
Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics Open
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme repl…
View article: EVALUATION OF GROWTH IN LONG-TERM FOLLOW-UP IN INDIVIDUALS WITH PHENYLKETONURIA
EVALUATION OF GROWTH IN LONG-TERM FOLLOW-UP IN INDIVIDUALS WITH PHENYLKETONURIA Open
Objective: The aim of our study was to evaluate the anthropo metric parameters of patients with Phenylketonuria (PKU) re ceiving special nutritional therapy and how these parameters changed over time, and to evaluate anthropometric measure…
View article: An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort
An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort Open
Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the PAH gene, resulting in deficient phenylalanine hydroxylase (PAH) enzyme activity and neurotoxic phenylalanine accumulation. Untreated…
View article: Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia
Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia Open
Objective: We aimed to evaluate the frequency of pathological changes in blood parameters and their relationship with serum creatinine and glomerular filtration rate (GFR) in patients with methylmalonic acidemia. Methods: Demographic and l…
View article: Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency
Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency Open
Cystathionine 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 mechanism…
View article: The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)
The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG) Open
Objectives Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by u…
View article: Challenging Childhood Obesity: The Influence of Education and Close Monitoring on Obesity-Related Behaviors
Challenging Childhood Obesity: The Influence of Education and Close Monitoring on Obesity-Related Behaviors Open
Background: We aimed to evaluate the role of nutrition and behavior education intervention in the prevention and treatment of childhood obesity by comparing changes in obesity-related characteristics among obese children during a follow-up…
View article: Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria
Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria Open
Background/Objectives: Phenylketonuria is a hereditary metabolic disorder characterized by a deficiency of phenylalanine hydroxylase. The main treatment for PKU is a phenylalanine-restricted diet. The exclusion of protein rich natural food…
View article: Evaluation of Body Composition and Biochemical Parameters in Adult PKU
Evaluation of Body Composition and Biochemical Parameters in Adult PKU Open
Background/Objectives: Phenylketonuria is a hereditary metabolic disorder characterized by a deficiency of phenylalanine hydroxylase. Main treatment for PKU is a phenylalanine-restricted diet. Exclusion of protein rich natural foods and in…
View article: Oxidative Damage and Mitochondrial Dysfunction in Cystathionine Beta-synthase Deficiency
Oxidative Damage and Mitochondrial Dysfunction in Cystathionine Beta-synthase Deficiency Open
Cystathionine 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 mechanism…
View article: Variable clinical phenotypes of alpha‐methylacyl‐<scp>CoA</scp> racemase deficiency: Report of four cases and review of the literature
Variable clinical phenotypes of alpha‐methylacyl‐<span>CoA</span> racemase deficiency: Report of four cases and review of the literature Open
Alpha‐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 cli…
View article: Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism Open
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurot…
View article: Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Turkiye
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Turkiye Open
Objective: Tay-Sachs disease is a fatal inherited lysosomal storage disease that mostly has an early infantile onset.We presented a case series of Tay-Sachs disease, describe the clinical and molecular findings, and compare the genetic spe…
View article: Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases Open
Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components are predominantly associated with path…
View article: BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening Open
There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disord…
View article: Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature Open
Introduction: Chronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the clinical findings of triosephosphate isomerase (TPI) deficiency, which is an ultra-ra…
View article: BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation Open
Common mutations in BTD deficiencies were indentified. Associating them with phenotype-genotype data will assist clinicians in better genetic counselling and management in the future by implementing prevention programmes. Key Words: Biotin…
View article: Evaluation of Immunization Status in Patients with Cerebral Palsy: Multicenter CP-VACC Study
Evaluation of Immunization Status in Patients with Cerebral Palsy: Multicenter CP-VACC Study Open
Children with chronic neurological diseases,including cerebral palsy(CP)are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease.This study…