Inherited Metabolic Disorders

Inherited metabolic disorders, also called inborn erros of metabolism, are inheritable (genetic) disorders of biochemistry. Examples include albinism, cystinuria, (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease.

These are only a few of the hundreds of known inborn errors of metabolism.

Advances in the diagnosis and treatment of inborn errors of metabolism have improved the outlook for many of these conditions which has resulted in children surviving to adulthood.

A new adult IMD service at the University Hospital Birmingham commenced in 2008.

IMD is provided on a regional basis by the following trusts:

• Adults - University Hospital Birmingham
• Children - Birmingham Children's NHS Foundation Trust