Metabolic Disorders

ADA Deficiency – Description Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeat and persistent infections that can be very serious or …

Introduction Pellagra is a disorder due to inadequate dietary intake of niacin and/or tryptophan, manifested by a characteristic dermatitis on areas of the skin that are exposed to the sun, beginning as an erythema with pruritus that may lead to vesticulation but more frequently becomes chronic, rough, scaly, and hard …

Introduction Gout is one of the most painful forms of arthritis. It occurs when too much uric acid builds up in the body. The buildup of uric acid can lead to: Sharp uric acid crystal deposits in joints, often in the big toe Deposits of uric acid (called tophi) that …

Introduction Gestational diabetes mellitus defined as “carbohydrate intolerance of variable severity with onset or first recognition during pregnancy”. Diabetes is a common condition in which the body’s cells are unable to effectively obtain glucose from the bloodstream. Glucose is required to provide the body with energy for day-to-day activities. The …

Definition Hunters syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn’t have enough of the enzyme iduronate 2-sulfatase. This enzyme’s job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up …