(from the article `genetic disease, human`) Many autosomal recessive traits reflect mutations in key metabolic enzymes and result in a wide variety of disorders classified as inborn errors of ... ...pentosuria, albinism, and cystinuria—were caused by defects in specific biochemical pathways due to the diminished activity or complet...
Found on
http://www.britannica.com/eb/a-z/i/14
A genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria. ... (05 Mar 2000) ...
Found on
http://www.encyclo.co.uk/local/20973
a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathologic consequences at birth, as in phenylketonuria, or in later life.
Found on
http://www.encyclo.co.uk/local/21001
Type: Term Definitions: 1. a group of disorders, each of which involves a disorder of a single unique enzyme, genetic in origin and operating from birth; effects are ascribable to accumulation of the substrate on which the enzyme normally acts (phenylketonuria), to deficiency of the product of the enzyme (albinism), or to forcing metabolism through...
Found on
http://www.medilexicon.com/medicaldictionary.php?t=54549
Inborn error of metabolism: A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few of the hundreds of known inborn errors of metabolism. Advances in the diagno...
Found on
http://www.medterms.com/script/main/art.asp?articlekey=3951
[
n] - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Found on
http://www.webdictionary.co.uk/definition.php?query=inborn%20error%20of%20m
a disorder caused by an inherited defect in an enzyme pathway which affects the body's metabolism.
Found on
https://www.stanfordchildrens.org/en/topic/default?id=glossary-medical-gene
No exact match found.
