Inborn errors of metabolism

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities.

[1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

[6] Gas chromatography–mass spectrometry-based technology with an integrated analytics system has now made it possible to test a newborn for over 100 mm genetic metabolic disorders.

[8] In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications.

In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many previously untreatable disorders.