Tag: neurological symptoms
Symptomatic Porphyria
Symptomatic Porphyria: Definition and Description of Symptomatic Porphyria: Symptomatic Porphyria refers to a group of disorders related to the accumulation of porphyrins or their precursors due to enzymatic deficiencies in the heme production pathway. These conditions can lead to a variety of symptoms affecting the skin and nervous system. The most common types of symptomatic…
Sphingomyelinase Deficiency
Sphingomyelinase Deficiency: Definition and Description of Sphingomyelinase Deficiency: Sphingomyelinase Deficiency, also known as Niemann-Pick Disease type A and B, is a rare genetic disorder characterized by a deficiency of the enzyme sphingomyelinase. This enzyme plays a critical role in lipid metabolism, particularly in breaking down sphingomyelin, a type of lipid found in cell membranes. When…