Metabolic diseases
Inheritance patterns and prenatal diagnosis
Inheritance patterns
These depend on which chromosome the gene is to be found and the type of defect. Most are recessive but some are X-linked or dominant and a few are sporadic. Genetic counselling should always be sought.
Prenatal diagnosis
Prenatal diagnosis is often available but is dependent on the precise metabolic disease and several other factors.
How is it treated?
| Is there support? ![]()