Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.266T>C(p.Leu89Pro his LALD patient presented recurrent diarrhea, failure to thrive, hepatomegaly, and dyslipidemia at the age of 4 months and liver failure by the age of 13 years. the patient had already undergone his first Liver Transplant at 18 years with several rejection episodes. Despite beginning treatment with sebelipase alfa at 26 years old (total of five infusions), this patient died at 28 years from complications after his second liver transplant
| Title : Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency - Bastos_2024_Int.J.Mol.Sci_25_8648 |
| Author(s) : Bastos KLM , Stephan BO , Linnenkamp BDW , Costa LA , Lima FR , Carvalho LML , Honjo RS , Tannuri U , Tannuri ACA , Kim CA |
| Ref : Int J Mol Sci , 25 : , 2024 |
| Abstract : |
| PubMedSearch : Bastos_2024_Int.J.Mol.Sci_25_8648 |
| PubMedID: 39201333 |
| Gene_locus related to this paper: human-LIPA |