A5039611426- Metabolism and Genetic Disorders
- Blood disorders and treatments
- Alcoholism and Thiamine Deficiency
- Vitamin K Research Studies
- Child and Adolescent Health
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Genomics and Rare Diseases
- Connective tissue disorders research
- Vitamin C and Antioxidants Research
- Hereditary Neurological Disorders
- Amino Acid Enzymes and Metabolism
- Infant Development and Preterm Care
- Biochemical and Molecular Research
- Folate and B Vitamins Research
- Neurological diseases and metabolism
- Congenital heart defects research
Ankara Bilkent City Hospital
2023-2024
Ministry of Health
2021
Introduction: Bi-allelic variants in the 17-hydroxysteroid dehydrogenase type 4 gene (HSD17B4) cause extremely rare autosomal recessive disorder known as peroxisomal D-bifunctional protein deficiency (D-BPD) (#OMIM 261515). This mediates hydration and dehydrogenation fatty acid β-oxidation pathway. Because of this, very long chain acids (VLCFAs), branched (pristanic acid), bile components can't be broken down without it. Clinically, it causes developmental delay with neonatal hypotonia,...
<b><i>Introduction:</i></b> Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterized by 5-oxoprolinuria. The inherited of 5-oxoprolinuria, or pyroglutamic aciduria, primarily caused mutations in the genes that encode glutathione synthetase (GSS) and (OPLAH), which are enzymes involved gamma-glutamyl cycle metabolism. We report 3-year-old male patient with epilepsy speech difficulty diagnosed as primary 5-oxoprolinuria due to novel...
Abstract Objectives The fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. FA2H in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration brain iron accumulation. Case presentation A patient a gait since age seven was admitted the paediatric metabolism department. She born consanguineous, healthy Turkish parents had no...
Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features scurvy lead to frequent misdiagnoses, they can often point other diseases, such vasculitis, venous thrombosis musculoskeletal disorders. As such, an extensive workup is recommended in cases which suspected.A 21-month-old male patient 36-month-old female presented difficulty walking, painful joint...
Glycogen storage disease (GSD) type 1b is a multisystemic in which immune and infectious complications are present, different from GSD 1a. Treatment with granulocyte-colony stimulating factor (G-CSF) often required the management of neutropenia inflammatory bowel disease. Recently, an alternative treatment option to G-CSF has been preferred, like empagliflozin. To report on demographics, genotype, clinical presentation, management, pediatric patients glycogen (GSD 1b).A retrospective...
<b><i>Introduction:</i></b> Sepiapterin reductase deficiency (SRD) is an exceedingly rare neurotransmitter disease caused by enzyme error involved in the synthesis of tetrahydrobiopterin (BH4). It has been described nearly 60 cases so far. The clinical manifestations include motor and speech delay, axial hypotonia, dystonia, weakness, oculogyric crises, diurnal fluctuation, improvement symptoms during sleep. Molecular genetic analysis can demonstrate pathogenic...
ABSTRACT: Objective: The Parents' Evaluation of Developmental Status (PEDS) and the Ages Stages Questionnaire (ASQ) are developmental screening tools that commonly used in pediatric practice worldwide. We aimed to compare results PEDS ASQ children with a wide range ages evaluate degree agreement between tests across age groups. Methods: study was conducted participation 327 aged 3 72 months. Participants were administered then ASQ. Children known disabilities included represent real-world...