For some metabolic disorders treatments are available. However many of these must be continued for life. Inheritance patterns These depend upon the particular metabolic condition involved. In the majority of conditions inheritance is autosomal recessive. However, some are X-linked or dominant, while in a few conditions the incidence is sporadic.
Genetic counselling is available.
Pre-natal diagnosis is available for those conditions for which enzyme identification is known through a range of techniques including chorionic villus sampling, amniocentesis and fetal blood sampling. But there is a group where the specific enzyme dysfunction has not been fully discovered and no pre-natal diagnosis is available. In such cases families usually need extra counselling. Due to the ever increasing number of conditions identified as coming under the umbrella of Metabolic Disease, it is not possible to include them all in this entry. They can now be found listed individually in the index and are updated regularly.