This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Ga16P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1399-0004.1979.tb01759.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Beyond the bowel: Wernicke's encephalopathy as a neurological complication of Crohn's disease: A case report.
Radiol Case Rep
August 2024
Radiology Unit 1, Department of Medical Surgical Sciences and Advanced Technologies "GF Ingrassia", University Hospital Policlinico "G. Rodolico-San Marco", University of Catania, 95123 Catania, Italy.
Wernicke encephalopathy (WE) is a rare but severe neurological syndrome characterized, in its classic form, by the acute onset of ocular disturbances, ataxia, and cognitive impairment. It is caused by a deficiency of thiamine (vitamin B1) and mainly affects chronic alcoholics, although it can also affect patients with pathologies that lead to malnutrition. We present a case of a 58-year-old woman, who presented with significant weight loss over the past 6 months and who came to the emergency department for episodes of repetitive vomiting and a sleepy state.
View Article and Find Full Text PDFCarnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Ital J Pediatr
April 2024
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "Giuseppe D'Alessandro", University of Palermo, Palermo, Italy.
Background: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult onset) on the base of mutations of the CPT II gene. In affected subjects, long-chain acylcarnitines cannot be subdivided into carnitine and acyl-CoA, leading to their toxic accumulation in different organs.
View Article and Find Full Text PDFDeficiencies in monitoring practices of marine protected areas in southern European seas.
J Environ Manage
March 2024
Department of Integrative Marine Ecology, Stazione Zoologica Anton Dohrn, Sicily Marine Centre, Lungomare Cristoforo Colombo (complesso Roosevelt), 90149 Palermo, Italy.
Worldwide, states are gazetting new Marine Protected Areas (MPAs) to meet the international commitment of protecting 30% of the seas by 2030. Yet, protection benefits only come into effect when an MPA is implemented with activated regulations and actively managed through continuous monitoring and adaptive management. To assess if actively managed MPAs are the rule or the exception, we used the Mediterranean and Black Seas as a case study, and retrieved information on monitoring activities for 878 designated MPAs in ten European Union (EU) countries.
View Article and Find Full Text PDFAromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
Genes (Basel)
January 2024
Unit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.
Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the gene. Since the enzyme is involved in the biosynthesis of serotonin and dopamine, its deficiency determines the lack of these neurotransmitters, but also of norepinephrine and epinephrine. Onset is early and the key signs are hypotonia, movement disorders (oculogyric crises, dystonia and hypokinesia), developmental delay and autonomic dysfunction.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!