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Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.
16956 Ensembl ENSG00000175445 ENSMUSG00000015568 UniProt P06858 P11152 RefSeq (mRNA) NM_000237 NM_008509 RefSeq (protein) NP_000228 NP_032535 Location (UCSC) Chr 8: 19.9 – 19.97 Mb Chr 8: 69.33 – 69.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Lipoprotein lipase Identifiers EC no. 3.1.1.34 CAS no. 9004-02-8 Databases IntEnz IntEnz view BRENDA BRENDA entry ExPASy NiceZyme ...
The rabbit test became a widely used bioassay (animal-based test) to test for pregnancy. The term "rabbit test" was first recorded in 1949, and was the origin of a common euphemism, "the rabbit died", for a positive pregnancy test. [4] The phrase was, in fact, based on a common misconception about the test.
Iron deficiency is the most common cause of non-physiologic anemia. Iron deficiency anemia can be prevented with supplemental oral iron 27–30 mg daily. [27] This dose typically corresponds to the amount of iron found in iron-containing prenatal vitamins. Consult with your medical provider to determine whether additional supplements are needed.
Lysosomal acid lipase deficiencies occur when a person has defects (mutations) in both copies of the LIPA gene. Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. With every pregnancy, parents with a son or daughter affected by LAL deficiency have a 1 in 4 (25%) chance of having another affected child.
Alipogene tiparvovec, sold under the brand name Glybera, is a gene therapy treatment designed to reverse lipoprotein lipase deficiency (LPLD), a rare recessive disorder, due to mutations in LPL, which can cause severe pancreatitis. [1]
Raye, 27, is no stranger to recognition. She swept last year’s Brit Awards (the U.K.’s Grammy equivalent) with six trophies including best album, breaking Adele’s record for the most wins in ...
Acute fatty liver of pregnancy is a rare life-threatening complication of pregnancy that occurs in the third trimester or the immediate period after delivery. [1] It is thought to be caused by a disordered metabolism of fatty acids by mitochondria in the fetus, caused by long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. [2]