Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare genetic disease where the body cannot properly break down the amino acid ...

Homocystinuria caused by cystathionine beta-synthase deficiency is a rare genetic disease. In this condition, the body cannot use an amino acid called ...

Deficiency of serine sulfhydrase means that a special body enzyme called cystathionine-beta-synthase (CBS) does not work properly or is missing. This enzyme ...

Deficiency of methylcysteine synthase is another name for cystathionine beta-synthase (CBS) deficiency, also called classic homocystinuria. In this disease, a ...

Deficiency of beta-thionase is almost always talking about beta-ketothiolase deficiency, also called mitochondrial acetoacetyl-CoA thiolase deficiency or ACAT1 ...

Classic homocystinuria is a rare genetic disease where the body cannot break down an amino acid called homocysteine properly because an enzyme named ...

Transferase deficiency galactosemia type 1 (often called classic galactosemia) is a rare genetic disease where the body cannot properly break down a milk sugar ...

Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (also called galactose-1-phosphate uridylyltransferase, GALT) is a rare genetic ...

Deficiency of uridine diphosphate-glucose–hexose-1-phosphate uridylyltransferase means that the body is missing or has very low activity of an enzyme called ...

Deficiency of UDP-glucose–hexose-1-phosphate uridylyltransferase means the body is missing or has very low activity of an enzyme called galactose-1-phosphate ...

Deficiency of hexose-1-phosphate uridylyltransferase means that the body has very low or no activity of an enzyme called galactose-1-phosphate ...

Deficiency of galactose-1-phosphate uridyl transferase (usually written GALT deficiency) is a genetic disease where the body is missing, or has very low ...

Classic galactosemia is a rare genetic disease that affects how the body uses a sugar called galactose, which is found in milk and many milk-based foods. In ...

Familial polyposis coli is a rare inherited disease of the large intestine (colon) and rectum. In this disease, hundreds or even thousands of small growths ...

Familial multiple polyposis syndrome is another name for familial adenomatous polyposis (FAP). It is a rare, inherited disease where a person grows many small ...

Familial intestinal polyposis usually means a condition called familial adenomatous polyposis (FAP). It is an inherited disease where hundreds to thousands of ...

Colorectal adenomatous polyposis is a condition where many small growths called adenomatous polyps develop inside the large bowel (colon) and rectum. These ...

Adenomatous polyposis of the colon usually refers to familial adenomatous polyposis (FAP), a genetic condition where hundreds to thousands of small growths ...

Adenomatous polyposis is a health problem where many small growths, called adenomatous polyps, grow in the inner lining of the large intestine (colon) and ...

Classic familial adenomatous polyposis is an inherited disease where a person grows hundreds to thousands of small growths, called polyps, inside the large ...