Type I hyperlipidaemia caused by lipoprotein lipase deficiency in a nurseling: the role of the clinical laboratory in processing biological samples and contributing to the diagnosis and therapeutic follow-up of patients.

Abstract excerpt

We describe the case of a two-months-old nurseling admitted to the paediatric emergency unit for vomiting. Upon clinical examination, the paediatrician found the child pale with an alteration of the general condition, a tachycardia and severe hepatomegaly. Blood sampling revealed hyperlipasemia at 228 IU/L and lactescent plasma, prompting the biologist to complete the prescription by lipid profile analysis....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to LPL gene
• Share to Homozygote