COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1

Objectives: The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1). Case presentation: A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease. She had lethargy, hypotonia, and choreoathetoid movements. In terms of COVID-19 encephalopathy, the reverse transcriptionpolymerase chain reaction assay test for COVID-19 was negative in cerebral spinal fluid. Brain imaging showed frontotemporal atrophy, bilateral subcortical and periventricular white matter, basal ganglia, and thalamic involvement. Elevated glutarylcarnitine in plasma and urinary excretion of glutaric and 3-OH-glutaric acids was noted. A homozygote mutation in the glutaryl-CoA dehydrogenase gene led to the diagnosis of GA-1. Conclusions: With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature

Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience

Objectives: Accurate management of metabolic decompensation in maple syrup urine disease (MSUD) has a crucial role, as acute attacks can cause neurological sequels and can be life threatening. Here, we aimed to evaluate effect of sodium phenylbutyrate (NaPBA) in acute management of MSUD attacks

Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children

Introduction: Peritoneal dialysis and continuous renal replacement therapy (CRRT) are the most frequently used treatment modalities for acute kidney injury. CRRT is currently being used for the treatment of several non-renal indications, such as congenital metabolic diseases. CRRT can efficiently remove toxic metabolites and reverse the neurological symptoms quickly. However, there is not enough data for CRRT in children with metabolic diseases. Therefore, we aimed a retrospective study to describe the use of CRRT in metabolic diseases and its associated efficacy, complications, and outcomes. Materials and Methods: We performed a retrospective analysis of the records of all patients admitted in the pediatric intensive care unit (PICU) for CRRT treatment. Results: Between December 2014 and November 2018, 97 patients were eligible for the present study. The age distribution was between 2 days and 17 years, with a mean of 3.77 ± 4.71 years. There were 13 (36.1%) newborn with metabolic diseases. The patients were divided into two groups: CRRT for metabolic diseases and others. There was a significant relationship between the groups, including age (p ≤ 0.001), weight (p = 0.028), blood flow rate (p ≤ 0.001); dialysate rate (p ≤ 0.001), and replacement rate (p ≤ 0.001). The leucine reduction rate was 3.88 ± 3.65 (% per hour). The ammonia reduction rate was 4.94 ± 5.05 in the urea cycle disorder group and 5.02 ± 4.54 in the organic acidemia group. The overall survival rate was 88.9% in metabolic diseases with CRRT. Conclusion: In particularly hemodynamically unstable patients, CRRT can effectively and quickly reduce plasma ammonia and leucine

Relationship between vitamin B12, homocysteine and oxidative stress in juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA), which is one of the rheumatic diseases, is a systemic inflammatory disease characterized by chronic and erosive synovitis that involves peripheral joints. In patients who had been diagnosed with JIA, increasing proinflammatory cytokines, metabolic abnormalities associated with systemic inflammation, may provoke vascular endothelial damage which can cause atherosclerosis