Class I glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most severe form of G6PD enzyme deficiency. The enzyme G6PD protects red blood cells from “oxidative stress.” In Class I, the enzyme ...
Nonspherocytic hemolytic anemia due to G6PD deficiency is a lifelong, inherited blood condition in which red blood cells (RBCs) break down too soon. The problem is not a “spherocyte” shape change (as ...
Ancylostoma infectious disease, commonly called hookworm infection, happens when tiny parasitic worms reach the small intestine and drink blood from the gut wall. The worms start life as eggs passed ...
Ancylostoma is a group of hookworms—parasitic roundworms—that includes Ancylostoma duodenale (a human hookworm), A. ceylanicum (now recognized as infecting humans in parts of Asia), and animal ...
Amoebiasis due to free-living amoebae means infections in people caused by tiny single-celled organisms (amoebae) that normally live freely in the environment—especially water, soil, and dust. These ...
Amoebiasis due to Entamoeba Histolytica is an infection caused by a tiny parasite called Entamoeba histolytica. The parasite lives in the human gut and spreads through food or water contaminated with ...
Thiamine Metabolism Dysfunction Syndrome type 4 (THMD4) is a very rare, inherited nerve and brain energy disorder. It happens when both copies of a gene called SLC25A19 do not work properly. This ...
N-acyl-L-amino acid amidohydrolase deficiency is a very rare, inherited metabolic condition. The body makes a protein (an enzyme) called aminoacylase-1. This enzyme’s normal job is to remove a small ...
Aminoacylase-1 deficiency is a very rare inherited metabolic condition. In this disorder, the body’s enzyme called aminoacylase-1 does not work well. This enzyme normally removes a small chemical tag ...
Alpha-thalassemia myelodysplasia syndrome (often shortened to AT-MDS) is a rare blood disorder that happens in adults who already have a bone-marrow disease called myelodysplastic syndrome (MDS). In ...
Acquired haemoglobin H (HbH) disease is a rare, adult-onset form of alpha-thalassaemia that appears later in life rather than being inherited from birth. It happens when a bone-marrow clone (a group ...
Alpha-2-plasmin inhibitor deficiency (also written as α2-antiplasmin deficiency) is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and then slowly dissolve when healing is ...
Alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare, inherited condition that mainly affects boys. It causes intellectual disability, slow development, weak muscle tone ...
Alpha thalassemia–X-linked intellectual disability syndrome, often shortened to ATR-X syndrome, is a rare genetic condition that mostly affects boys. It is caused by a change (mutation) in a gene ...
Alpha-thalassemia–intellectual disability syndrome linked to chromosome 16—often shortened to ATR-16—is a rare genetic condition caused by losing a piece from the very tip of the short arm of ...
Alpha-thalassemia–intellectual disability syndromes (ATR-X syndrome) is a rare genetic condition that mostly affects boys and men. It is caused by changes (mutations) in a gene named ATRX on the X ...
Alpha thalassemia-intellectual disability syndrome—often shortened to ATR-X syndrome—is a rare genetic condition that mainly affects boys. It combines two core features: alpha-thalassemia (a mild ...
Alpha thalassemia is a group of inherited blood disorders. They happen when the body cannot make enough alpha globin, a protein that helps build hemoglobin. Hemoglobin sits inside red blood cells and ...
MCT8 deficiency is a rare, inherited brain-development disorder caused by changes (variants) in a gene called SLC16A2. This gene makes a special “door” or transporter (named MCT8) that normally ...
Alkaptonuria is a rare, lifelong, inherited disease of body chemistry. Your body normally breaks down the amino acids phenylalanine and tyrosine into smaller safe parts. One step of this breakdown ...
