Enzyme Defect

**Prof. Dr. Sinsi** · 07-23-2012

* 1

A disorder resulting from a deficiency (or functional abnormality) of an enzyme

In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism

Today, newborns are routinely screened for certain enzyme defects such as PKU (phenylketonuria) and galactosemia, an error in the handling (metabolism) of the sugar galactose
İngilizce Benzer Kelimeler* angiotensin converting enzyme
* angiotensin converting enzyme inhibitor
* angiotensin-converting enzyme inhibitor
* atrial septal defect
* atrial septal defect (asd)
* autosomal recessive defect
* birth defect
* character defect
* conduction by defect
* congenital defect
* congenital heart defect
* critical defect
* crystal defect
* defect
* defect analysis

07-23-2012	#1
Prof. Dr. Sinsi	Enzyme Defect * 1A disorder resulting from a deficiency (or functional abnormality) of an enzyme In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism Today, newborns are routinely screened for certain enzyme defects such as PKU (phenylketonuria) and galactosemia, an error in the handling (metabolism) of the sugar galactose İngilizce Benzer Kelimeler* angiotensin converting enzyme * angiotensin converting enzyme inhibitor * angiotensin-converting enzyme inhibitor * atrial septal defect * atrial septal defect (asd) * autosomal recessive defect * birth defect * character defect * conduction by defect * congenital defect * congenital heart defect * critical defect * crystal defect * defect * defect analysis