Pancytopenia –An Uncommon Presentation of an Inborn Error of Metabolism

Pancytopenia as a presenting feature of an Inborn Error of Metabolism (IEM) is rare. Two children with pancytopenia mimicking sepsis are presented here. Investigations revealed pancytopenia and metabolic acidosis. Both had previous episodes of encephalopathy. In view of the persisting pancytopenia, episodic encephalopathy and metabolic acidosis, despite therapy for sepsis, an underlying IEM was considered and further workup revealed organic acidemia. Both children were started on dietary modifications and supplements, to which they responded, however one of them succumbed to an intercurrent infection. IEM should be considered in children with episodic encephalopathy, metabolic acidosis and pancytopenia after ruling out sepsis. Timely intervention can reduce morbidity and mortality.

Fabry disease: a case report

Fabry disease is a rare X-linked recessive inborn error of metabolism due to deficient activity of the lysosomal enzyme, a-galactosidase A (a-Gal A). This results in the tissue accumulation of uncleaved glycosphingolipids within vascular endothelial lysosomes of various organs including skin, heart, kidneys and brain. We report a case of Fabry disease, in an 18-year-old boy, who presented with unilateral leg swelling and angiokeratoma corporis diffusum. Birdem Med J 2021; 11(2): 145-147

Wrangling Shape-Shifting Morpheeins to Tackle Disease and Approach Drug Discovery

Homo-multimeric proteins that can come apart, change shape, and reassemble differently with functional consequences have been called morpheeins and/or transformers; these provide a largely unexplored context for understanding disease and developing allosteric therapeutics. This article describes such proteins within the context of protein structure dynamics, provides one detailed example related to an inborn error of metabolism and potential herbicide development, and describes the context for applying these ideas for understanding disease and designing bioactive molecules, such as therapeutics.