COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of its unpredictable consequences in these patients. There is limited data in literature on evaluating the impact and the outcome of COVID-19 infection in these patients. This cross-sectional retrospective study on a large cohort of unvaccinated IMD patients, reviewed the incidence of COVID-19 infection, disease manifestation and outcome during the pandemic between November 2019 and July 2021. In this cohort of 1058 patients, 11.7% (n = 124) were infected with COVID-19. Their median age was 16 years (age range 2-42); 57% (n = 71) were males. Post-exposure positive test was noted in 78% (n = 97) patients, while 19% (n = 24) had symptomatic diagnosis and three patients tested positive during pre-hospital visits screening. Most patients, 68.5% (n = 85) had mild COVID-19 related symptoms such as fever, cough, headache and diarrhea while 13.7% (n = 17) patients had no symptoms. Of twenty-two patients (17.7%) who required hospitalization, 16 were adults with various intoxication and energy metabolism disorders, who developed IMD related complications such as metabolic acidosis, hyperammonemia, acute pancreatitis, hypoglycemia, rhabdomyolysis and thrombosis. Ten patients needed intensive care management. The cohort death rate was 2.4% (3 patients). Overall, the clinical course of COVID-19 infection in these IMD patients was relatively mild except for patients with intoxication and energy metabolism disorders who had high risk of developing acute metabolic decompensation with severe complications.

The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients.

BACKGROUND: In Saudi Arabia, a diet for life policy has been adopted in the management of amino acid metabolism disorders for years. However, the specially designed low protein products/medical foods - which are one of the important treatment tools - were not available up until several years ago in Saudi Arabia (SA). Our aim was to measure the compliance and quality of life in patients affected with these disorders followed in the metabolic nutrition clinic at King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA. METHODOLOGY: We used a non-randomized retrospective/prospective study which utilized the growth parameters, biochemical data of patients plus questionnaires collected from patients and their family/caregivers. A total of n = 182 patients affected with selected amino acid metabolism disorders were enrolled. Some were excluded n = 84 for various reasons. Sample analyzed were: Phenylketonuria (PKU) (44), Maple Syrup Urine Disease (MSUD) (30), Tyrosinemia (TYR) (17) and Homocystinuria (HCU) (7). Tandem Mass Spectrometry (TMS) used to quantitate plasma amino acid concentrations. Data was obtained using (COMPLE) Microsoft-Access which was designed by the metabolic nutrition clinic at KFSH&RC-Riyadh. Student's paired t-test was used to investigate relationship between variables. RESULTS: The main findings were the improvement of selected amino acid levels pre and post the usage of medical foods. In PKU patients, the TMS Phenylalanine (PHE) levels post usage was significantly decreased (P value < .0001). This was also the case in MSUD patients with significant decrease in Leucine & Isoleucine levels (P value .0008) but not in Valine levels (P value .1148) as 36.7% of them received Valine supplements while enrolled in the study. CONCLUSION: Low protein products availability was successful in improving outcomes for selected amino acid metabolic disorders. However, due to compliance issues and impracticality of the diet, the results were not significant in all enrolled patients.

Propionic acidemia associated with visual hallucinations.

Propionic acidemia, an autosomal recessive disorder, is a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase. It is characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia. A wide range of brain abnormalities have been reported in propionic acidemia. We report recurrent visual hallucinations in 2 children with propionic acidemia. Four visual hallucination events were observed in the 2 patients. Three episodes were preceded by an intercurrent illness, and 2 were associated with mild metabolic decompensation. The 2 events in one patient were associated with a seizure disorder with abnormal electroencephalogram. Brain magnetic resonance imaging showed abnormal basal ganglia and faint temporo-occipital swelling bilaterally. This is probably the first report of visual hallucinations in propionic acidemia and should alert the treating clinicians to look for visual hallucinations in patients with organic acidurias, especially in an unusually anxious child.