Health / Medical Topics |
Homocystinuria
An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. (NCI Thesaurus)
YOU MAY ALSO LIKE
Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein (391 aa, ~44 kDa) is encoded by the human HERPUD1 gene. This protein is…
The determination of the amount of homocysteine amino acid present in a sample.
An amino acid derivative and homolog of cysteine containing an additional methylene bridge. Homocysteine is a product of methionine metabolism and elevated…
A taxonomic family that was originally restricted to humans and their extinct relatives, but now also includes the gorilla, orangutan, chimpanzee and…
Any of a family (Hominidae) of erect bipedal primate mammals comprising recent humans together with extinct ancestral and related forms. …
The chloride salt of ethidium (a fluorochrome), Ethidium Chloride intercalates within double-stranded nucleic acids, particularly DNA. In molecular biology, the bromide salt…