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Definition

An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.

Acronym

HLPP1

Synonyms

Chylomicronemia, familial
Hyperchylomicronemia, familial
Hyperlipemia, essential familial
Hyperlipemia, idiopathic, Burger-Grutz type
Hyperlipoproteinemia, type IA
Lipase D deficiency
LIPD deficiency
Lipoprotein lipase deficiency
LPL deficiency

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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Main funding by: National Institutes of Health

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