Clinical features: The inborn errors of metabolism constitute a large family of genetic diseases affecting the body?s metabolism, that is the body?s ability to turn food into energy. Many hundreds of inborn errors of metabolism have now been described and because of this the clinical presentation is diverse, with almost any system of the body affected. In the majority of metabolic disorders the symptoms arise because of the accumulation of substances which are toxic or which interfere with the normal function of the cells. In others, symptoms occur because of the reduced ability of the cells to produce essential compounds.
Incidence: Individually rare, but collectively common with a minimum incidence of 1 in 2,500.
Inheritance : Single gene disorder, mostly autosomal recessive, some X-linked recessive.
Gene: Many identified.
Prenatal diagnosis: Possible in families in which either the genetic mutation is known or by enzyme analysis. Please refer to your local clinical genetics service prior to a pregnancy. This ensures family members are offered appropriate advice and investigations, to confirm whether or not prenatal diagnosis is possible.
Carrier testing: Possible if mutations identified in affected family members. Carrier detection by enzyme analysis does not always give a clear-cut answer because of the overlap of the affected range with the normal range.
UK Support Group: Climb, National Information & Advice Centre for Metabolic Disease Climb Building 176 Nantwich Road Crewe CW2 6BG Tel: 0800 652 3181 (Freephone) Tel: 0870 7700 326 Fax: 0870 7700 327 Web: www.climb.org.uk
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