Deficiency of acetyl-coenzyme A acetyltransferase is a rare, inherited metabolic disorder. It happens when a specific enzyme inside the mitochondria does not ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
ACAT1 deficiency is a rare, inherited condition where the body cannot properly use the enzyme acetoacetyl-CoA thiolase. This enzyme helps the body break down ...
Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disease. The body lacks enough activity of an enzyme called mitochondrial acetoacetyl-CoA ...
Alpha-methyl-acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disorder. It is also called beta-ketothiolase (BKT) deficiency or ACAT1 ...
Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disorder. The body cannot use a key enzyme (called mitochondrial acetoacetyl-CoA thiolase, also ...
Acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disease. The body lacks enough activity of an enzyme called mitochondrial acetoacetyl-CoA ...
3-oxothiolase deficiency is a rare, inherited metabolic disorder. The body cannot properly break down the amino acid isoleucine. The body also cannot use ...
3-methyl-3-hydroxybutyric acidemia (the condition most newborn-screening programs and medical references call 2-methyl-3-hydroxybutyric acidemia, or HSD10 ...
2-methyl-3-hydroxybutyricacidemia is a rare inherited metabolic disease. Your body cannot properly break down the amino acid isoleucine and cannot use ketone ...
Beta-ketothiolase deficiency is a rare, inherited metabolic disease. It happens when a mitochondrial enzyme called acetoacetyl-CoA thiolase (also known as ...
Mannosidosis is a rare, inherited lysosomal storage disease. In healthy cells, lysosomes are the recycling centers that break down used-up molecules. In ...
Beta-mannosidase deficiency (often called beta-mannosidosis) is a very rare lysosomal storage disorder. The body is missing or has very low activity of an ...
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 ...
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 ...
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 ...
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 ...
Hemorrhagiparous thrombocytic dystrophy is also known as bleeding-prone disorder involving platelets—either low platelet count (thrombocytopenia), inherited ...
Hemorrhagic dystrophic thrombocytopenia” is an old, descriptive name that doctors once used for a rare inherited bleeding disorder in which people have very ...
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 ...
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 ...
