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Argininosuccinic acid lyase deficiency (also called argininosuccinic aciduria) is a rare, inherited disorder of the urea cycle, the body’s pathway for clearing extra nitrogen by turning...
Argininosuccinic aciduria is a rare, inherited metabolic disorder that makes it hard for the body to clear ammonia—the waste product that forms when we break down...
Aromatase deficiency is a very rare, inherited condition caused by changes (mutations) in the CYP19A1 gene. The gene makes the enzyme aromatase, which converts androgens (like...
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, inherited brain chemistry disorder. The body cannot properly make the “monoamine” messenger chemicals that carry signals between...
Aspartoacylase deficiency is a rare, inherited brain disorder in which a single enzyme—called aspartoacylase (ASPA)—does not work properly. This enzyme normally breaks down a natural brain...
Aspergillus niger infection? means illness in a person caused by the fungus Aspergillus niger. A. niger is a “black mold” that lives widely in the environment—in...
Asplenia is a medical condition where a person has no spleen or their spleen does not function properly. The spleen is a small organ located on...
Asthma Symptoms Causes is a common long-term inflammatory disease of the airways of the lungs. It is characterized by variable and recurring symptoms, reversible airflow obstruction, and bronchospasm. Symptoms include episodes of wheezing, coughing, chest tightness, and shortness...
Astley-Kendall dysplasia is a lethal skeletal dysplasia. “Lethal” here means most affected babies die before birth or in the newborn period. It is marked by very...
Atelosteogenesis type I is a very rare genetic condition that affects how bones form before birth. Babies have very short arms and legs, dislocated large joints...
Atelosteogenesis type III (AO3) is a very rare genetic condition that affects how bones form before birth. Babies are usually born with very short arms and...
Atransferrinemia (also called congenital? hypotransferrinemia) is a very rare inherited blood disorder where the body makes little or no transferrin, the main protein that carries iron...
