Carnosinemia
Carnosinemia is a very rare inherited metabolic disease. It happens when the body does not have enough of an enzyme called carnosinase. This enzyme normally breaks down a small protein (a dipeptide) ...
Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Carnitine-Acylcarnitine Translocase (CACT) Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare inherited disorder of fat breakdown (fatty-acid β-oxidation). The CACT protein sits in the inner wall of the mitochondria (the cell’s ...
Late-onset Carnitine Palmitoyltransferase II (CPT II) Deficiency
Late-onset Carnitine Palmitoyltransferase II (CPT II) Deficiency is an inherited problem in the way muscles burn long-chain fats for energy. The CPT2 gene makes an enzyme (CPT II) that sits on the ...
Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency is a rare, inherited metabolic disorder that blocks the body from using certain fats (long-chain fatty acids) for energy. Normally, a protein ...
Carbamoyl Phosphate Synthetase I (CPS1) Deficiency Disease
Carbamoyl Phosphate Synthetase I (CPS1) deficiency is a rare, inherited problem of the urea cycle. The urea cycle is the liver’s “nitrogen-cleaning” system. It turns extra nitrogen (from protein ...
Aspartoacylase Deficiency (Canavan Disease)
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 chemical ...
Calciphylaxis
Calciphylaxis is a rare but very serious disease of small blood vessels in the skin and fat. Calcium builds up in the walls of tiny arterioles. The vessels become narrowed and blocked. Blood cannot ...
Deficiency of Benzoylcholinesterase
Benzoylcholinesterase (also called pseudocholinesterase or butyrylcholinesterase) is an enzyme made in the liver and released into your blood. Its job is to help break down some anesthesia drugs, ...
Post-Anesthetic Apnea due to Butyrylcholinesterase (BCHE) Deficiency
Post-anesthetic apnea due to BCHE deficiency means a person has a much slower breakdown of certain anesthesia muscle-relaxing drugs—mainly succinylcholine (also called suxamethonium) and mivacurium. ...
Butyrylcholinesterase (Pseudocholinesterase) Deficiency
Butyrylcholinesterase (BChE) deficiency—also called pseudocholinesterase deficiency—is a condition in which the blood enzyme that breaks down certain anesthesia drugs works poorly or is missing. ...
Searle’s Ulcer
Searle’s ulcer is an infection of the skin and the tissue under the skin caused by a bacterium called Mycobacterium ulcerans. It starts as a firm, painless lump or swelling and, over weeks, the skin ...
Mossman Ulcer
Mossman ulcer is a slow-growing bacterial infection that starts as a painless lump, patch, or swelling under the skin. Over weeks, the skin thins and breaks down into a painless open sore (ulcer) ...
Daintree Ulcer
Daintree ulcer is a skin infection that makes a painless lump or swelling that slowly turns into a deep ulcer (open sore). It is caused by a germ called Mycobacterium ulcerans. This germ lives in the ...
Cutaneous Mycobacterium Ulcerans Infection
Cutaneous Mycobacterium ulcerans infection, also called Buruli ulcer, is a skin disease caused by a slow-growing bacterium named Mycobacterium ulcerans. The germ makes a toxin called mycolactone. ...
Bairnsdale Ulcer
Bairnsdale ulcer is a skin and soft-tissue infection caused by a bacterium named Mycobacterium ulcerans. The germ makes a toxin called mycolactone that damages fat under the skin. This damage starts ...
Buruli Ulcer
Buruli ulcer is a long-lasting skin infection caused by a bacterium called Mycobacterium ulcerans. The germ makes a toxin (mycolactone) that quietly destroys skin, fat, and sometimes bone. Because ...
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