Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency is a rare, inherited metabolic disease. It happens when a mitochondrial enzyme called acetoacetyl-CoA thiolase (also known as beta-ketothiolase, T2, or the ACAT1 enzyme) ...
Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Mannosidosis
Mannosidosis is a rare, inherited lysosomal storage disease. In healthy cells, lysosomes are the recycling centers that break down used-up molecules. In mannosidosis, a key lysosomal enzyme is ...
Beta-D-Mannosidosis
Beta-D-mannosidosis is a very rare inherited disease. It happens when a person is born with changes (variants) in a gene called MANBA. This gene makes an enzyme named beta-mannosidase. The enzyme ...
Cooley’s Anemia (β-Thalassemia Major)
Cooley’s anemia is a genetic blood disease. It happens when the body cannot make enough beta-globin, a key building block of hemoglobin (the protein in red blood cells that carries oxygen). Because ...
Beta Thalassemia Syndrome
Beta Thalassemia Syndrome is a group of inherited blood conditions where the body cannot make enough beta-globin, an essential protein chain that helps form hemoglobin (the oxygen-carrying protein ...
Thrombopathy Focused on the Bernard–Soulier Types
A thrombopathy is a problem with how platelets work. Platelets are tiny blood cells that help stop bleeding. In thrombopathy, the number of platelets may be normal or low, but the quality or function ...
Hemorrhagiparous Thrombocytic Dystrophy
Hemorrhagiparous thrombocytic dystrophy is also known as bleeding-prone disorder involving platelets—either low platelet count (thrombocytopenia), inherited platelet-function defects (such as ...
Hemorrhagic Dystrophic Thrombocytopenia
Hemorrhagic dystrophic thrombocytopenia” is an old, descriptive name that doctors once used for a rare inherited bleeding disorder in which people have very large platelets (macro-platelets), too few ...
Giant Platelet Syndrome
Giant platelet syndrome means the platelets in your blood are unusually large and the platelet count is low. Platelets are tiny blood cells that help stop bleeding. When platelets are big and fewer ...
Giant Platelet Disorder
Giant platelet disorder means you are born with very large platelets and often fewer platelets than normal. Platelets help stop bleeding. When they are big and/or few, they may not work well, so ...
Bernard-Soulier Syndrome (BSS)
Bernard-Soulier syndrome is a rare bleeding disorder that you are born with. It happens because the platelets do not stick well to damaged blood vessels. Platelets are tiny blood cells that start a ...
Bernard–Soulier Thrombopathy (Bernard–Soulier Syndrome)
Bernard–Soulier thrombopathy is a rare, inherited bleeding disorder where platelets—the tiny cell fragments that plug holes in injured blood vessels—are both too large (often called “giant ...
Bernard–Soulier Syndrome
Bernard–Soulier syndrome is a rare inherited bleeding disorder. In BSS, platelets are abnormally large and often fewer than normal. Doctors call this “macro-thrombocytopenia.” The main problem is ...
Total lipodystrophy
Total lipodystrophy means the body loses almost all its fat everywhere. “Fat” here means adipose tissue, which stores energy and makes hormones like leptin and adiponectin. When body fat is missing, ...
Generalised Congenital Lipodystrophy (GCL)
Generalised congenital lipodystrophy (GCL) is a rare genetic condition present from birth. In GCL, the body has almost no fat tissue (adipose tissue) under the skin or inside the body. Because the ...
Berardinelli-Seip syndrome
Berardinelli-Seip syndrome is a rare genetic condition where the body is born with almost no fat tissue under the skin and around organs. Because fat cells are missing or not working, fat gets stored ...
Lethal Popliteal Pterygium Syndrome (LPPS)
Lethal popliteal pterygium syndrome (LPPS) is a very rare genetic condition present from birth. Babies are born with tight skin bands or webs across one or more joints—often behind the knees (the ...
TAZ- Related Dilated Cardiomyopathy
TAZ-related dilated cardiomyopathy is a heart muscle disease caused by changes (mutations) in the TAFAZZIN (TAZ) gene on the X chromosome. The TAZ gene makes a protein called tafazzin. Tafazzin helps ...
Cardioskeletal Myopathy–Neutropenia Syndrome
Cardioskeletal myopathy–neutropenia syndrome is a rare, inherited condition that mainly affects the heart muscle, skeletal (body) muscles, and white blood cells called neutrophils. The heart muscle ...
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
Cardioskeletal myopathy with neutropenia and abnormal mitochondria clinicians know this mostly as Barth syndrome, an ultra-rare, X-linked mitochondrial disease caused by TAFAZZIN (TAZ) gene ...
