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Key
Concepts
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- 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 diseases, 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).
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