| Table
1: |
|
Key
Concepts
|
- Awareness
of the clinical features of inherited metabolic liver diseases
should promote proactive diagnostic evaluation.
- The clinical
features of certain inherited metabolic liver diseases may present
in childhood, may disappear during growth and development, and
may reappear in adult life.
- Molecular
diagnostic testing has made available genotypic evaluation in
some disesases, to complement phenotypic diagnosis.
- Preemptive
treatment may prevent the development of phenotypic complications
in some diseases (eg, hereditary hemochromatosis and Wilson's
disease), and orthotopic liver transplantation may be curative
in others (eg, alpha1-antitrypsin deficiency and Wilson's
disease).
|
|