Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.
Lipids Health Dis
; 14: 102, 2015 Sep 04.
Article
de En
| MEDLINE
| ID: mdl-26337181
ABSTRACT
BACKGROUND:
Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme.FINDINGS:
An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p.Q240H mutation in exon 5 of the lipoprotein lipase (LPL) gene. His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction.CONCLUSIONS:
We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment. A review of the current literature regarding LPL deficiency syndrome reveals a few potential new therapies under investigation.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Hypertriglycéridémie
/
Lipoprotein lipase
/
Mutation
Type d'étude:
Prognostic_studies
Limites:
Humans
/
Male
Langue:
En
Journal:
Lipids Health Dis
Sujet du journal:
BIOQUIMICA
/
METABOLISMO
Année:
2015
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique