Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection

Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hypertriglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a low...

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Veröffentlicht in:	Clinica chimica acta 2022-04, Vol.529, p.1-3
Hauptverfasser:	Thowfeek Zeenath Thaneefa, Mohamed, Amarakoon, Givani, Mendis, Devan, Jasinge, Eresha, Hooper, Amanda J., Burnett, John R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Compound heterozygote Familial chylomicronaemia Female Humans Hyperlipoproteinemia Type I - diagnosis Hyperlipoproteinemia Type I - genetics Hypertriglyceridemia Infant Lipoprotein Lipase LPL deficiency Mutation Respiratory Tract Infections - diagnosis
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