Garrod expanded his metabolic studies to cover cystinuria, pentosuria, and albinism . These three inborn errors, along with alkaptonuria are collectively called Garrod's tetrad.
32.
Mutations in the ALDH6A1 gene are associated with methylmalonate semialdehyde dehydrogenase deficiency, a rare autosomal recessive inborn error of metabolism with a highly variable phenotype.
33.
Inborn error of metabolism specialists taking part in Metab-L are mostly clinicians / pediatricians or coming from a biochemical and laboratory professional or geneticist background.
34.
This phenomenon is called dominance; the biochemical reason for wild-type alleles'dominance over nonfunctional mutant alleles in inborn errors of metabolism comes from how enzymes function.
35.
The mailing list archives-accessible for members via a WWW-interface-reflect scientific and clinical discussion and developments with regard to inborn errors of metabolism since August 1995.
36.
The diagnosis of " Reye Syndrome " greatly decreased in the 1980s, when genetic testing for inborn errors of metabolism was becoming available in developed countries.
37.
Histidinemia occurs as the result of an inborn error of metabolism that may result in either an inactive or a severely reduced Histidine ammonia-lyase enzyme activity.
38.
Most other inborn errors of metabolism are caused by loss-of-function mutations, and hence have recessive inheritance ( condition occurs only if both copies are mutated ).
39.
"' Metab-L "'is an electronic mailing list on inborn errors of metabolism ( IEM ) that has acquired some notability among specialists in that field of medicine.
40.
He was also the eldest brother of Archibald Edward Garrod ( 1857 & ndash; 1936 ), an English physician who pioneered the field of inborn errors of metabolism.
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