Juvenile Metachromatic Leukodystrophy
Juvenile Metachromatic Leukodystrophy (MLD) is a rare, inherited neurological disorder that affects the central and peripheral nervous systems. It is characterized by the accumulation of…
Infantile Metachromatic Leukodystrophy (MLD)
Infantile metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the white matter of the brain and nervous system. It is caused by a…
Homocystinuria: Causes, Symptoms, Diagnosis, and Treatment
Homocystinuria is a rare genetic disorder characterized by the inability of the body to properly process the amino acid methionine. It results from mutations in…
Hereditary Orotic Aciduria Type I
Hereditary orotic aciduria type I is a rare autosomal recessive metabolic disorder characterized by a deficiency in the enzyme uridine monophosphate synthase (UMPS). This condition…
Hemophilia B: Causes, Symptoms, Diagnosis, and Treatment
Hemophilia B, also known as Christmas disease, is a rare inherited bleeding disorder caused by a deficiency of clotting factor IX. This condition leads to…
Hemophilia A: Causes, Symptoms, and Treatment
Hemophilia A is a genetic bleeding disorder caused by insufficient or defective clotting factor VIII. It is the most common type of hemophilia, affecting primarily…
Gaucher’s Disease: Causes, Symptoms, Diagnosis, and Treatment
Gaucher’s disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to the accumulation of glucocerebroside in the spleen,…
Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is one of the most severe forms of muscular dystrophy, a group of disorders that cause progressive muscle degeneration and weakness.…
Congenital thrombotic thrombocytopenic purpura
Thrombotic Thrombocytopenic Purpura (TTP) is a rare but serious blood disorder characterized by the formation of small blood clots (thrombi) throughout the body, leading to…
Congenital sucrase-isomaltase deficiency
Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare inherited disorder that affects the digestive system, causing difficulties in the breakdown of certain sugars in the body.…