In this randomized, double-blind study, we compared the anesthetic characteristics and pulmonary function changes of 0.33% bupivacaine and 0.33% ropivacaine used for interscalene brachial plexus (IBP) anesthesia in patients with chronic renal failure. Forty-two patients undergoing IBP anesthesia for creation of arteriovenous fistulas were randomly allocated to receive either 30 mL of 0.33% bupivacaine (Group B) or 0.33% ropivacaine (Group R). Block onset time, diaphragmatic excursion (ultrasonographic evaluation), and free plasma concentrations of bupivacaine and ropivacaine were evaluated. Negative motion or immobility of the ipsilateral hemidiaphragm and a decrease of >10 mm in positive motion were defined as diaphragmatic paresis. The pulmonary function variables were measured by bedside spirometry equipment. Seven patients needed supplemental local anesthetic, one with total spinal block; these patients were excluded from the study. The success rate was 80.9%. Block quality was similar in the two groups. Ipsilateral hemidiaphragmatic excursion was decreased in both groups compared with baseline values (P < 0.05). Diaphragmatic paresis was identified in 10 of 16 patients and 8 of 18 patients in Groups B and R, respectively (P > 0.05). Pulmonary function significantly decreased from baseline in both groups (forced vital capacity (FVC) 30%, forced expiratory volume at 1 second (FEV(1)) 32%, and peak expiratory flow (PEF) 31% in Group B and FVC 17%, FEV(1) 17%, and PEF 5% in Group R) (P < 0.001). The decreases in Group B were larger than those in Group R (P < 0.05). Three patients in Group B and one in Group R had mild respiratory problems (P > 0.05). Concentrations of bupivacaine and ropivacaine were below toxic levels rather than "normal range." We conclude that pulmonary function decreased more after IBP with 0.33% bupivacaine than with 0.33% ropivacaine.

Background: Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient elevations of liver transaminases and coagulopathy have been reported during hyperammonemia episodes, a permanent coagulopathy has never been reported. Methods: In this retrospective study, coagulation disturbances are examined in 6 argininemia patients. All of the patients were routinely followed up for hepatic involvement due to argininemia. Laboratory results, including liver transaminases, albumin, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (aPTT), and clotting factor levels, were assessed in all of the patients. Results: All of the patients had a prolonged PT and an increased INR, while none of the patients had a prolonged aPTT. Five patients had slightly elevated liver transaminases. A liver biopsy was performed in 1 patient but neither cirrhosis nor cholestasis was documented. Five of the 6 patients had low factor VII and factor IX levels, while other clotting factors were normal. Conclusions: Argininemia patients should be investigated for coagulation disorders even if there is no apparent liver dysfunction or major bleeding symptoms.

Background: The prognosis of phenylketonuria (PKU) in terms of neurocognitive outcome is directly related to lifelong phenylalanine (Phe) levels and adherence to treatment. Monitoring and treatment of PKU patients can be complicated in challenging circumstances as pandemics. This study aims to evaluate the impact of telemedicine for monitoring and treatment of PKU patients on metabolic outcome during coronavirus disease-19 (COVID-19) outbreak. Materials and Methods: Patients who were diagnosed as PKU and treated with low Phe diet, tetrahydrobiopterin (BH4), or BH4 adjunct with low Phe diet were enrolled. Study period was divided into two periods: prepandemic period wherein patients were followed up in outpatients' clinic and during pandemic wherein telemedicine was used. Demographic findings, laboratory results, and therapy responses were reviewed retrospectively and compared between the two periods. All procedures were in accordance with the ethical standards of the local ethical committee of Cerrahpasa Medical Faculty (17/11/2020-151640) and with the Helsinki Declaration of 1975, as revised in 2013. Results: Ninety-three (n = 93) patients were enrolled to this study. The ratio of the samples with Phe levels in the recommended ranges was found to be statistically higher during the pandemic wherein an online monitoring system was used in all treatment modalities (p < 0.05). The decrease in Phe washout frequency was statistically significant during the pandemic in the low Phe diet group (p < 0.05). Considering the relationship between Phe tolerance before and during the pandemic, a significant increase in Phe tolerance was noted during the pandemic in the low Phe diet group (p < 0.05). Conclusions: Telemedicine can be an appropriate and effective monitoring option for PKU patients during the COVID-19 pandemic.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim of this study is to evaluate clinical, neuroradiological findings and therapy responses of pediatric CTX patients and raise awareness to early features of disease. Patients who were molecularly diagnosed as CTX before 18 years of age were included in study. Clinical, epidemiological, radiological and genotypic features of patients and chenodeoxycholic acid (CDCA) therapy responses were reviewed retrospectively. Six patients were enrolled in the study. The mean age of diagnosis was 11.1 ± 4.5 years. Apart from previous studies, predominance of cerebellar signs over pyramidal signs, peripheral neuropathy with demyelinating neuropathy in majority of patients and pathological brain imaging findings despite young ages of patients were observed. Intention tremor was the consisting finding of all patients. Optic disc drusen was initially reported in one patient. Skeletal system involvement as coarse extremities, deformities and early osteoporosis was recognized in four patients. CDCA therapy improved or at least stabilized neurological functions in all patients. This study is the first CTX series from Turkey and performed among only in early diagnosed patients with a therapy follow-up contrary to limited data in the literature. We suggest that, awareness of intention tremor and ataxic gait in addition to mental retardation, peripheral neuropathy and early osteoporosis can be suspicious for CTX and lead diagnosis. Early treatment can provide stability and may also ameliorate existing neurological findings.

Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism. Currently, the treatment in HT1 consists of two principles: inhibition of the formation of toxic metabolites by nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione; NTBC] and reduction of tyrosine levels by dietary treatment. In this chapter besides presenting the data for 42 patients that had been followed up by Pediatric Metabolic Diseases and Nutrition Unit, Cerrahpasa Medical Faculty, Istanbul University, we also evaluated the data abstracted from the previously published case studies in order to better understand the disease course and gain further insight in the current diagnosis and treatment for HT1 in Turkey.

Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan degradation. Mucopolysaccharidosis type IX is the rarest form of mucopolysaccharidosis. To date, only four patients have been reported. The first reported patient had mild short stature and periarticular soft tissue masses; the other reported patients are clinically indistinguishable from juvenile idiopathic arthritis. In the present study, we screened mucopolysaccharidosis type IX among patients with juvenile idiopathic arthritis with hyaluronidase enzyme assay. One hundred and eight patients with JIA and 50 healthy age-matched control subjects were enrolled in the study. Among all patients, none had deficient hyaluronidase activity. Though serum Hyal-1 activity was significantly increased in JIA patients, compared with control subjects (p < 0.000), no correlation was found between CRP, ESR, and Hyal-1 activity (p = 0.187). In conclusion, the data reported in our study indicates that systemic metabolic investigation for hyaluronidase activity is not recommended in all patients with JIA.

Biotinidase deficiency (BD) is an inborn metabolic disorder inherited in an autosomal recessive manner. Partially due to high consanguinity rates in Turkey, BD incidence is high in Turkey. If left untreated, neurological abnormalities including seizures, hypotonia, sensorineural deafness, alopecia, egzamatous skin rash and candidiasis may occur. Three-years-old girl was admitted to hospital with recurrent infections, candidiasis and egzamatous skin rash. Immunological evaluation was normal. Associated deafness and consanguinity of the parents suggested BD which has been proven by enzyme activity measurement. With this report, we want to emphasise that BD can be the underlying cause of recurrent infections and candidiasis.

Background Infectious diseases can result in a catabolic state and possibly trigger an acute metabolic decompensation in inborn errors of metabolism (IEM), which could be life threatening. Studies regarding the course of severe acute respiratory syndrome coronavirus 2 infections in patients with IEM are generally limited to case reports. Here, we aimed to evaluate the clinical findings of coronavirus disease 2019 (COVID‐19) and describe the impact of severe acute respiratory syndrome coronavirus 2 infections on metabolic outcomes in IEM patients. Methods Patients who were diagnosed with different types of IEM and developed microbiologically confirmed COVID‐19 infection were included. Clinical findings and laboratory results were recorded retrospectively in terms of both IEM and COVID‐19. Results Eleven patients with diagnosis of intoxication type metabolic disorders, five patients with energy metabolism disorders, and six patients with complex molecular disorders were enrolled. The most frequent clinical finding was fever (52.1%) followed by fatigue/myalgia (47.8%). None of the patients was younger than 1 year. None of the patients presented severe or critical disease. In terms of metabolic decompensation, two patients diagnosed with propionic acidemia, one patient with methylmalonic acidemia and one patient with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency presented clinical and biochemical findings of an acute metabolic attack. Conclusions Based on our results, IEM are not found to be an additional risk factor for severe COVID‐19 infection. However, patients with intoxication type and energy metabolism disorders should be considered as a vulnerable population for COVID‐19 and have a major risk of developing acute metabolic decompensation that can lead to life‐threatening complications.