Hereditary fructose intolerance and alpha(1) antitrypsin deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10869005.
- Also identified by PMC identifier 1718408.
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Abstract
A patient with coexisting hereditary fructose intolerance (HFI) and alpha(1) antitrypsin deficiency (alpha(1)ATD) is described. Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI. The case underlines the diagnostic role of molecular genetic techniques in inborn errors of metabolism.
Medical subject headings
- Fructose Intolerance
- alpha 1-Antitrypsin Deficiency