Abstract
We report a case of Alstrom syndrome with evidence of extensive hepatic disease diagnosed at five years of age, who subsequently developed acute liver failure and died at eight years of age. Such a case, with the patient dying before the age of ten, has not been described before. The biochemical findings during our patient's liver failure raised the question of a possible mitochondrial function defect in this syndrome. Further investigation of this possibility is needed.
Original language | English (US) |
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Pages (from-to) | 9-11 |
Number of pages | 3 |
Journal | American journal of medical genetics |
Volume | 101 |
Issue number | 1 |
DOIs | |
State | Published - Jun 1 2001 |
Externally published | Yes |
Keywords
- Coagulopathy
- Encephalopathy
- Hyperammonemia
- Mitochondrial disorder
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)