RESUMEN

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.

Asunto(s)

COVID-19 , Enfermedades Metabólicas , Pancreatitis , Enfermedad Aguda , Adolescente , Adulto , COVID-19/complicaciones , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Enfermedades Metabólicas/complicaciones , Enfermedades Metabólicas/epidemiología , Pancreatitis/complicaciones , Pandemias , Estudios Retrospectivos , SARS-CoV-2 , Adulto Joven

RESUMEN

Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptomatic patients has not been determined. This study sought to identify overt and subclinical optic neuropathy in a cohort with classical MMA. Methods and Materials: Neuroophthalmic examinations were performed on 21 patients identified with classical MMA, older than 10years. Diagnosis of optic neuropathy was determined by a combination of visual acuity, optic nerve appearance and electrodiagnostic tests. Tabulated data were analyzed for association of variables using SAS software. Significance was set at p < .05. Results: Two-thirds were Saudi nationals and one third, Syrian. Age range was 11-29years. Eleven (52.4%) patients had optic neuropathy. Nine (81.8%) of these were bilateral, seven (57.9% to 63.6%) reported decreased vision and four (33.1% to 36.4%) were asymptomatic. Two patients had catastrophic vision loss, following acute metabolic crises. Sixteen patients had chronic renal impairment while three had renal hypertension. Seventeen patients had short stature and eight, chronic pancreatitis. Methylmalonic acid levels ranged from 82 to 3,324µmol/L (Normal<1µmol/L). There was a significant association between optic neuropathy and female gender (p = .011) and none with age, nationality, renal impairment, pancreatitis or specific genotype. Conclusion: Optic neuropathy was a frequent finding in classical MMA. It was often bilateral and some cases were sub-clinical, lacking visual symptoms. These findings have important management implications. Full ophthalmic evaluations should be performed early and regularly in patients with MMA, even when patients are asymptomatic.

Asunto(s)

Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Enfermedades del Nervio Óptico/patología , Adolescente , Adulto , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Enfermedades del Nervio Óptico/etiología , Pronóstico , Agudeza Visual , Adulto Joven

RESUMEN

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.