A5015106986- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Infectious Encephalopathies and Encephalitis
- Lysosomal Storage Disorders Research
- Diabetes and associated disorders
- Neurological and metabolic disorders
- Carbohydrate Chemistry and Synthesis
- Immunodeficiency and Autoimmune Disorders
- Diet and metabolism studies
- Ion Transport and Channel Regulation
- Trypanosoma species research and implications
- Potassium and Related Disorders
- Renal function and acid-base balance
Istanbul University-Cerrahpaşa
2021-2023
Introduction: The prognosis of phenylketonuria (PKU) in terms neurocognitive outcome is directly related to lifelong phenylalanine (Phe) levels and adherence treatment. Monitoring treatment PKU patients can be complicated challenging circumstances as pandemics. This study aims evaluate the impact telemedicine for monitoring on metabolic during coronavirus disease-19 (COVID-19) outbreak. Materials Methods: Patients who were diagnosed treated with low Phe diet, tetrahydrobiopterin (BH4), or...
Infectious diseases can result in a catabolic state and possibly trigger an acute metabolic decompensation inborn errors of metabolism (IEM), which could be life threatening. Studies regarding the course severe respiratory syndrome coronavirus 2 infections patients with IEM are generally limited to case reports. Here, we aimed evaluate clinical findings disease 2019 (COVID-19) describe impact on outcomes patients.Patients who were diagnosed different types developed microbiologically...
Fabry disease (FD) is a rare metabolic disorder, in which lifelong enzyme replacement therapy (ERT) constitutes the cornerstone of disease-specific therapy. In this study, we examined effects COVID-19 pandemic and lockdown measures on management FD patients.We collected data three main domains; mood status, adherence to ERT, infection. We used Hospital Anxiety Depression Scale (HADS) evaluate statuses patients Morisky Medication Adherence (MMAS) Report (MARS) assess patients' non-disease...
Abstract Objectives The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors metabolism has rarely been discussed. Herein, we report a case an acute encephalopathic crisis at the course COVID-19 disease as first sign glutaric aciduria type 1 (GA-1). Case presentation A 9-month-old patient was admitted encephalopathy and loss acquired motor skills during disease. She had lethargy, hypotonia, choreoathetoid movements. In terms encephalopathy, reverse...
There are no recommended guidelines or clinical studies on safety of COVID-19 vaccines in patients with inborn errors metabolism (IEMs). Here, we aimed to examine the relationship between vaccination and metabolic outcome paediatric IEM patients.Patients ages 12 18 were enrolled. Term decompensation was defined as acute disruption homeostasis due vaccination. Clinical biochemical markers compared pre- post-vaccination periods.Data from a total 36 episodes included. Thirteen had...
Introduction SARS-CoV-2 infection can lead to a life-threatening acute metabolic decompensation in children with inborn errors of metabolism (IEM), so vaccination is mandatory. However, IEMs also impair innate or adaptive immunity, and the impact these immune system alterations on immunogenicity vaccine efficacy still unknown. Here, we investigated humoral responses BNT162b2 mRNA COVID-19 clinical outcomes pediatric IEM patients. Methods Fifteen patients between 12-18 years age confirmed...
Abstract Background and Aims Fabry disease is a rare metabolic disorder, lifelong enzyme replacement therapy with recombinant human alpha-galactosidase A (agalsidase) constituted the cornerstone of disease-specific therapy. COVID-19 pandemic epidemic control measures including lockdowns impaired access to health care services. We examined effect lockdown on mood status management patients. Method conducted cross-sectional study between October 2020 December 2020. used Hospital Anxiety...