Multiple carboxylase deficiency (MCD) is a crucial metabolic disorder that occurs when there is a lack of coenzyme activity of biotin.The usual genetic causes of multiple carboxylase deficiency involve biotinidase deficiency and holocarboxylase synthetase (HCS) deficiency.A deficiency is evident in the biotin-dependent enzymes (methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and propionyl-CoA carboxy  Read More

Rather than a disease, common variable immunodeficiency disorder (CVID) is a collection of hypo-gammaglobulinemia syndromes caused by various genetic defects.Primarily, it is a humoral immunodeficiency disorder, characterized by reduced serum levels of immunoglobulin G and immunoglobulin A (IgA) or immunoglobulin M (IgM), recurrent sinopulmonary infections, autoimmune disorders, granulomatous diseases, elevated ris  Read More