Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate metabolism caused by pathogenic/likely pathogenic biallelic mutations in the gene. This disorder is characterized by multisystem involvement with variable phenotypes, including intrauterine growth restriction; dysmorphic features; abnormal skin; hepatosplenomegaly; cytopenia; and cardiac, renal, and endocrine abnormalities. Herein, we present two Emirati patients with hypergonadotropic hypogonadism due to transaldolase deficiency and variable phenotypes of systemic involvement.
View Article and Find Full Text PDFBackground: Positive autoantibodies and its association with the clinical course of type 1 diabetes mellitus (T1DM) have been reported worldwide, however, no such data have been reported in United Arab Emirates population.
Objectives: To study the prevalence of positive autoantibodies in T1DM pediatric patients and its association with the clinical presentation.
Methods: Descriptive retrospective chart review of all new cases of pediatric T1DM at Tawam Hospital.