Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
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 :
An asymptomatic Pakistani patient with TG values of 36.8 mmol\/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol\/L on dietary modifications and by using fibrates
| Title : Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review - Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| Author(s) : Ain Q , Cevc M , Marusic T , Sikonja J , Sadiq F , Sustar U , Mlinaric M , Kovac J , Batool H , Khan MI , Trebusak Podkrajsek K , Bizjan BJ , Battelino T , Fras Z , Ajmal M , Groselj U |
| Ref : Front Endocrinol (Lausanne) , 15 :1387419 , 2024 |
| Abstract : |
| PubMedSearch : Ain_2024_Front.Endocrinol.(Lausanne)_15_1387419 |
| PubMedID: 38911039 |
| Gene_locus related to this paper: human-LPL |