Muckle-Wells Syndrome
Muckle-Wells syndrome (MWS) is a rare, inherited genetic condition that primarily affects the immune system. It is classified as a type of autoinflammatory disorder, causing…
Molybdenum Cofactor Deficiency Type A
Molybdenum cofactor deficiency type A (MoCD-A) is a rare autosomal recessive metabolic disorder that disrupts the function of molybdenum-dependent enzymes, particularly sulfite oxidase. This deficiency…
Homocystinuria Type I: Causes, Symptoms
Homocystinuria Type I is a rare genetic disorder characterized by elevated levels of homocysteine in the blood and urine. It results from a deficiency in…