| Title : Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation - Srinivasan_2004_J.Pediatr_144_662 |
| Author(s) : Srinivasan R , Hadzic N , Fischer J , Knisely AS |
| Ref : J Pediatr , 144 :662 , 2004 |
|
Abstract :
Mutation in ABHD5 causes Dorfman-Chanarin syndrome (DCS), a multisystem triglyceride storage disorder. Ultrastructural study of leukocytes confirmed DCS in a child homozygous for a novel ABHD5 mutation, with ichthyosis, developmental delay, and steatohepatitis with cirrhosis, manifest only as elevated aminotranferase levels. We recommend early assessment for liver disease in DCS. |
| PubMedSearch : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedID: 15127008 |
| Gene_locus related to this paper: human-ABHD5 |
| Mutation | H251P_human-ABHD5 |
| Gene_locus | human-ABHD5 |
| Family | CGI-58_ABHD5_ABHD4 |
| Disease | Chanarin-Dorfman syndrome |
Srinivasan R, Hadzic N, Fischer J, Knisely AS (2004)
Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation
J Pediatr
144 :662
Srinivasan R, Hadzic N, Fischer J, Knisely AS (2004)
J Pediatr
144 :662