Chronic Diarrhea – Causes, Symptoms, Diagnosis, Treatment
Chronic diarrhea is defined as the passage of loose or liquid stools, watery stools three or more times a day for at least 4…
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Chronic diarrhea is defined as the passage of loose or liquid stools, watery stools three or more times a day for at least 4…
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Clear cell carcinoma of the kidney is a cancer that starts in the tiny tubules of the kidney that filter blood and make urine. Doctors also...
Classic multiminicore myopathy is a rare inherited muscle disease that starts very early in life and stays for the whole lifetime. It belongs to a group...
4-layered lissencephaly is a “smooth brain” condition where the outer part of the brain (the cerebral cortex) does not form normal folds (gyri) and grooves (sulci),...
Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood after you eat. Because...
Classic lissencephaly (also called type 1 lissencephaly) is a rare brain problem that starts before birth, when the baby is still in the womb. In this...
Hyperhomocysteinemic syndrome means a person has too much homocysteine in the blood, usually above about 15 micromoles per liter (µmol/L). [1] Homocysteine is a normal amino...
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare genetic disease where the body cannot properly break down the amino acid methionine. Because the CBS...
Homocystinuria caused by cystathionine beta-synthase deficiency is a rare genetic disease. In this condition, the body cannot use an amino acid called methionine in the normal...
Deficiency of serine sulfhydrase means that a special body enzyme called cystathionine-beta-synthase (CBS) does not work properly or is missing. This enzyme normally changes two amino...
Deficiency of methylcysteine synthase is another name for cystathionine beta-synthase (CBS) deficiency, also called classic homocystinuria. In this disease, a body enzyme (CBS) that normally changes...
Deficiency of beta-thionase is almost always talking about beta-ketothiolase deficiency, also called mitochondrial acetoacetyl-CoA thiolase deficiency or ACAT1 deficiency. In this rare genetic disease, the body...
Classic homocystinuria is a rare genetic disease where the body cannot break down an amino acid called homocysteine properly because an enzyme named cystathionine beta-synthase (CBS)...