Sentence examples for error of metabolism from inspiring English sources

We have applied this rapid pulsed WGS to an in-house developed customized workflow enabling comprehensive diagnosis of all inborn errors of metabolism (IEM) with a known genetic basis, currently represented by 474 genes in our Centre for Inherited Metabolic Diseases (CMMS) Inborn Error of Metabolism gene database (dbCMMS).

In three cases metabolic acidaemia secondary to an inborn error of metabolism was the indication.

The disorder is the result of an inborn error of metabolism that hinders the liver's ability to excrete copper normally.

Inborn error of metabolism, any of multiple rare disorders that are caused by an inherited genetic defect and that alter the body's ability to derive energy from nutrients.

Perhaps the best-known disorder screened in this manner is phenylketonuria (PKU), an autosomal recessive inborn error of metabolism discussed in the section Autosomal recessive inheritance.

Cystinuria, hereditary error of metabolism characterized by the excessive excretion into the urine of four amino acids: cystine, lysine, arginine, and ornithine.

The homocysteine story actually began in 1969 when Dr. Kilmer S. McCully reported that children born with a genetic error of metabolism that causes their homocysteine levels to skyrocket to hundreds of micromoles died with advanced disease in their arteries at a very young age.

The term inborn error of metabolism was introduced in 1908 by British physician Sir Archibald Garrod, who postulated that inherited disorders such as alkaptonuria and albinism result from reduced activity or complete absence of enzymes involved in certain biochemical pathways.

Propionic acidemia is a relatively rare inborn error of metabolism.

PE is predominantly caused by inborn errors of metabolism, hereafter called metabolic diseases.

Numerous inherited metabolic disorders, also known as inborn errors of metabolism, respond to dietary treatment.