Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders. Methods During the COVID-19 pandemic, we conducted a questionnaire that was delivered via Internet to assess how this vulnerable patient group was affected by the pandemic in terms of their access to treatment and their disease-related symptoms. Results The questionnaire was filled out by 75 patients. There were 35 patients whose treatment dose was missed because of COVID-19. The most common reason for skipping treatment was not wanting to go to the hospital for fear of contracting COVID-19. These 35 patients missed a median of four doses of ERT (range: 1–16 dosages). Twenty-one patients (60%) claimed that they were affected physically by not taking ERT (20 mucopolysaccaridoses, 1 Fabry disease), whereas 14 (40%) did not. Conclusions Interruption of ERT during the COVID-19 pandemic may have significant consequences. It may be beneficial to switch to home treatment or reserve dedicated facilities. With proper planning and management, the treatment disruptions of this particular group can be avoided.

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Background. There is increased awareness regarding the co-occurrence of autism spectrum disorder (ASD) and inherited metabolic disorders (IMD), and this is crucial for the management of both diagnoses in clinical practice. We aimed firstly to report twenty-two patients with a dual diagnosis of IMD and ASD who are still being followed up in the child metabolism outpatient clinic; secondly to evaluate the time of both IMD and ASD diagnosis and the clinical progress of their metabolic disorders to underline treatable conditions. Methods. Among the patients admitted to the Pediatric Metabolism outpatient clinic because of IMD, twentytwo of them who had a diagnosis of ASD were included in the study. Data of the patients were collected from their medical records. The most recent progress of the patients concerning their metabolic disorder was obtained from the patients` files. Results. Six cases with Phenylketonuria, 2 cases with partial Biotinidase Deficiency, 3 cases with Cerebral Creatine Deficiency Syndrome (CCDS), 5 cases with Mucopolysaccharidosis (MPS) Type-3b, 2 cases with MPS Type-3a, 1 case with MPS Type 4, 2 cases with Hypervalinemia and 1 case with Maple Syrup Urine Disease were all diagnosed as also having ASD. The diagnoses of CCDS and MPS Type 3 were after the diagnosis of ASD. Phenylketonuria and Mucopolysaccharidosis were the most common diagnoses in our study. In addition, rare entities such as MPS Type 3b and Type 4 and Hypervalinemia were also reported to co-occur with autism. Conclusions. Considering the co-occurrence of both disorders and implementing intervention strategies accordingly will certainly be beneficial in clinical practice and particularly in countries with a high rate of consanguinity.

Background. Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism, the treatment of which often requires a special diet to prevent adverse neuropsychiatric outcomes. In the COVID-19 pandemic, which has had a substantial effect on the whole world since the beginning of 2020, PKU patients represent a vulnerable population because they may be dependent on special nutritional products, have limited access to routine care and display increased levels of anxiety. Methods. For this reason, an online questionnaire assessing the anxiety levels and various personal opinions and practices regarding the pandemic was sent to the PKU patients managed at our clinic, who were 12 years of age or older. Ninety-eight patients responded to the questionnaire. Median age of the participants was 19 years. Results. Most patients were compliant with the hygiene and social distancing recommendations regarding the spread of COVID-19. Of the patients, 61.2% felt more anxious since the pandemic. The most common concern was the possibility of not being able to obtain special nutritional products (58.2%). Anxiety level was significantly higher in females. Conclusions. These data suggest that food security is an important issue of concern in PKU patients. In line with the changing world after the pandemic, different strategies should be considered in the management of patients with inborn errors of metabolism, including PKU.