FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY (LPL)

Question 1

What is  FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY (LPL)?

Accepted Answer

rare (1:1000000)
autosomal recessive
mutation in the lipoprotein lipase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Lipoprotein-Lipase-Mangel, familiärer

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 238600

Question 4

Which enzymes are involved?

Accepted Answer

lipoprotein lipase

Disease	FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY (LPL)
Synonym	HYPERLIPOPROTEINEMIA, TYPE I; HYPERCHYLOMICRONEMIA
OMIM	238600 OMIM = Online Mendelian Inheritance of Men
Orphanet	309015
Protein (UniProt)	lipoprotein lipase
ExPASy	3.1.1.34
Gene locus	8p21.3
ICD	E78.3
Summary	rare (1:1000000) autosomal recessive mutation in the lipoprotein lipase gene
Laboratory findings	Cholesterol inc (serum) Chylomicrons inc (plasma) HDL-Cholesterol dec (plasma) Lipoprotein lipase dec (plasma) Triglycerides inc (serum) Uric acid inc (serum)
Symptoms	atherosclerosis dyspnea hepatomegaly (large liver) lipemia retinalis onset, childhood onset, infancy onset, neonatal pain, abdominal pancreatitis recent memory loss splenomegaly (large spleen) vomiting xanthoma